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Disease on EC 3.1.6.1 - arylsulfatase (type I)

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Acidosis, Lactic
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Acne Vulgaris
6-[2-(adamantylidene)-hydroxybenzoxazole]-O-sulfamate, a steroid sulfatase inhibitor for the treatment of androgen- and estrogen-dependent diseases.
Acquired Immunodeficiency Syndrome
Enzymic methods for estimation of the somatic cell count in bovine milk. 1. Development of assay techniques and a study of their usefulness in evaluating the somatic cell content of milk.
Metachromatic leukodystrophy: clinical and enzymatic parameters.
Acute Lung Injury
The upregulation of miR-204-3p in LPS-induced acute lung injury aggravated pulmonary endothelial cells apoptosis via targeting sulfatase 2.
Adenocarcinoma
Estrogen sulfotransferase and sulfatase: Roles in the regulation of estrogen activity in human uterine endometrial carcinomas.
Expression of acidic glycosphingolipids and arylsulphatase A activity in human pathological endometrium.
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Sulfatides and arylsulfatase A activity in major salivary glands of hamster (Mesocricetus auratus) after adenocarcinoma induction in oral cavity.
[A study on the mechanism of invasion of colorectal mucinous adenocarcinoma]
Adenocarcinoma of Lung
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Adenocarcinoma, Mucinous
[A study on the mechanism of invasion of colorectal mucinous adenocarcinoma]
Adenoma
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Adenomyosis
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
[Physiopathologic, diagnostic and therapeutic evolution in the management of adenomyosis: review of the literature]
Albinism, Ocular
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
alpha-galactosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Alzheimer Disease
Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease.
Decreased Expression of Sulfatase 2 in the Brains of Alzheimer's Disease Patients: Implications for Regulation of Neuronal Cell Signaling.
Amyotrophic Lateral Sclerosis
Aryl sulfatase in vitamin E deficiency and in amyotrophic lateral sclerosis.
Anaphylaxis
Arylsulfatase B of human lung. Isolation, characterization, and interaction with slow-reacting substance of anaphylaxis.
Eosinophil polymorphonuclear leukocyte function in immediate hypersensitivity.
Functional characterization of rat mast cell arylsulfatase activity.
Inactivation of slow reacting substance of anaphylaxis by human eosinophil arylsulfatase.
Isolation of human eosinophil phospholipase D.
Modulation of human eosinophil polymorphonuclear leukocyte migration and function.
Release of arylsulfatase A but not B from rat mast cells by noncytolytic secretory stimuli.
Studies of immediate hypersensitivity in a patient with Acanthocheilonema perstans filarial infection.
The release of four mediators of immediate hypersensitivity from human leukemic basophils.
Variations in chemical mediators of hypersensitivity in the sputum of chronic bronchitics: correlation with peak expiratory flow.
[Activity of serum arylsulfatase B in nasal allergy patients]
[Arylsulfatase activity of asthmatic children]
Anemia
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Aneurysm
Upregulated sulfatase and downregulated MMP-3 in thoracic aortic aneurysm.
Aortic Aneurysm, Thoracic
Upregulated sulfatase and downregulated MMP-3 in thoracic aortic aneurysm.
arylsulfatase (type i) deficiency
A block of autophagy in lysosomal storage disorders.
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
A major step on the road to understanding a unique posttranslational modification and its role in a genetic disease.
A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
A novel protein modification generating an aldehyde group in sulfatases: its role in catalysis and disease.
A Patient With Atypical Multiple Sulfatase Deficiency.
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease.
A study of arylsulfatase activity in children born of pregnancies affected with placental sulfatase deficiency.
A study of pregnancy with low estrogen production due to placental sulfatase deficiency.
A systematic cross-sectional survey of multiple sulfatase deficiency.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver.
Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.
Advances in the molecular genetics of metachromatic leukodystrophy.
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy.
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.
Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.
Bone marrow transplantation in the feline model of arylsulfatase B deficiency.
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Combined histochemical and biochemical investigation to the reliability of the demonstration of arylsulphatase activity in cryostat sections.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
De novo calcium/sulfur SAD phasing of the human formylglycine-generating enzyme using in-house data.
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Development and maturation of invariant NKT cells in the presence of lysosomal engulfment.
Diagnosing mucopolysaccharidosis IVA.
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate.
Diagnosis of arylsulfatase A deficiency.
Diagnosis of intrauterine fetal growth retardation by DHAS half-life.
Diagnosis of placental sulfatase deficiency..
Difficulty in recognizing multiple sulfatase deficiency in an infant.
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders.
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms.
Early manifestations of multiple sulfatase deficiency.
Early neurosurgical intervention in spondyloepiphyseal dysplasias.
Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder.
Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency.
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Expert recommendations for the laboratory diagnosis of MPS VI.
Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: a study of nine patients.
Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis.
Genetic complementation studies of multiple sulfatase deficiency.
Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Heterogeneity of Morquio disease.
How Does Nature Cleave Sulfuric Acid Esters? A Novel Posttranslational Modification of Sulfatases.
Hyaluronidase and sulfatase deficiency in Hurler's syndrome.
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
Incidence of placental sulfatase deficiency on the mode of termination of pregnancy.
Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency.
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Late infantile form metachromatic leukodystrophy: report of one case.
Late infantile form of multiple sulfatase deficiency.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.
Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.
Maternal plasma total oestriol and dehydroepiandrosterone sulfate loading test as indicators of feto-placental function or placental sulfatase deficiency.
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Metachromatic leukodystrophy without arylsulfatase A deficiency.
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Molecular genetics of metachromatic leukodystrophy.
Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification.
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
Mucopolysaccharidosis VI.
Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy.
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo.
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multiple sulfatase deficiency with a novel biochemical presentation.
Multiple sulfatase deficiency with early severe retinal degeneration.
Multiple sulfatase deficiency with neonatal manifestation.
Multiple sulfatase deficiency.
Multiple sulfatase deficiency: A case series of four children.
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Multiple sulfatase deficiency: bridge between neuronal storage diseases and leukodystrophies.
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.
Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts.
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Neonatal manifestation of multiple sulfatase deficiency.
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Neuro-ichthyotic Syndromes: A Case Series.
New assay for steroid sulfatase (EC 3.1.6.2) and its application for studies of human placental and skin sulfatase.
Newborn screening for lysosomal storage disorders.
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Origin of deoxycorticosterone and deoxycorticosterone sulfate in human pregnancy: absence of steroid 21-sulfatase activity in sulfatase-deficient placenta.
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Placental steroid deficiency: association with arylsulfatase A deficiency.
Placental steroid metabolism in a case of placental sulfatase deficiency.
Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
Placental sulfatase deficiency.
Placental sulfatase deficiency. Biochemical and clinical aspects.
Placental sulfatase deficiency: a case study.
Placental sulfatase deficiency: clinical and biochemical study of 16 cases.
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
Prediction of X-linked recessive ichthyosis due to placental sulfatase deficiency. A case report.
Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening.
Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.
Prenatal diagnosis of pseudo arylsulphatase A deficiency.
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency?
Problems in the clinical interpretation of arylsulfatase A deficiency.
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
Pseudo arylsulfatase A deficiency: evidence for a structurally altered enzyme.
Purification and properties of steroid sulfatase from human placenta.
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
Rapid degradation of steroid sulfatase in multiple sulfatase deficiency.
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Restriction of Aerobic Metabolism by Acquired or Innate Arylsulfatase B Deficiency: A New Approach to the Warburg Effect.
Retinal pigment epithelial degeneration and arylsulfatase A deficiency.
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
Saudi variant of multiple sulfatase deficiency.
Screening patients referred to a metabolic clinic for lysosomal storage disorders.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Self-eating in skeletal development: implications for lysosomal storage disorders.
Serum steroid hormone levels in neonates born from the mother with placental sulfatase deficiency.
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder.
Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects.
Steroid sulfatase deficiency.
Steroid sulfatase sulfatase deficiency and androgen activation before and after puberty.
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Structure of a human lysosomal sulfatase.
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector.
Sulfatase deficiency in the human placenta: clinical findings.
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
Sulfatase modifying factor 1-mediated fibroblast growth factor signaling primes hematopoietic multilineage development.
Sulfatases and human disease.
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Synthesis and characterization of NBD-PS: a fluorescent analog of cerebroside arylsulfatase A deficiency disorders.
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
The sulfatase gene family.
Thiosulfate-mediated increase of arylsulfatase activities in multiple sulfatase deficiency disorder fibroblasts.
Understanding the Metabolic Consequences of Human Arylsulfatase A Deficiency through a Computational Systems Biology Study.
Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency.
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Unusual early manifestation of multiple sulfatase deficiency.
Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).
Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach.
Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis).
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life.
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.
[A case of multiple sulfatase deficiency with fiber type disproportion]
[A rare genetic disease: multiple sulfatase deficiency]
[A study of 16 alpha OH-DHA and 16 alpha OH-pregnenolone in feto-placental unit (author's transl)]
[Arylsulfatase deficiency and various metabolic diseases]
[Biochemical and clinical observations in a patient with placental sulfatase deficiency]
[Biosynthesis of prostaglandin in human cervical tissue]
[Cases of multiple sulfatase deficiency in sisters--biopsy findings of the sural nerve]
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
[Deficiency in placental sulfatase. Clinical and biochemical study of 3 cases]
[Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease]
[Differentiation between arylsulfatase A deficiency and pseudo-deficiency]
[Endocrino-pharmacological study of reproduction: Role and biosynthesis of steroid hormones in the feto-placental unit]
[Endocrinological and histochemical studies of placental sulfatase deficiency]
[Maroteaux-Lamy syndrome: a case report].
[Metachromatic leukodystrophy and multiple sulfatase deficiency]
[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis]
[Multiple sulfatase deficiency]
[Paradoxal estrogen deficiency caused by placental sulfatase deficiency in a normal pregnancy]
[Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy]
[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)]
[Placental sulfatase deficiency in Japan]
[Placental sulfatase deficiency: an inborn error of metabolism]
[Serumprolactin and lactation in a case of placental sulfatase deficiency]
[Should we still explore placental sulfatase deficiencies? Reflections apropos of a case report]
[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency]
aspartate-ammonia ligase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Aspartylglucosaminuria
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Asthma
Eosinophilic leucocytes and arylsulfatase activity in bronchoalveolar lavage fluid of patients with bronchial asthma.
[Arylsulfatase activity of asthmatic children]
Ataxia
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Atherosclerosis
Inhibition of arylsulfatase B by ascorbic acid.
Avitaminosis
Avitaminosis E: organ distribution of aryl sulfatase elevation.
Bacterial Infections
[Serum levels of amino acid in patients with purple urine bag syndrome]
beta-galactosidase deficiency
Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.
beta-glucosidase deficiency
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Biliary Tract Diseases
[Activity of arylsulfatase A and B in liver tissue and systemic fluids in selected liver and biliary tract diseases]
Biotinidase Deficiency
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Bone Diseases
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
Bone Resorption
Ultrahistochemical analysis of glycosaminoglycan hydrolysis in the rat periodontal ligament. II. Aryl sulfatase and bone resorption.
Brain Diseases
Delayed postanoxic encephalopathy and pseudodeficiency of arylsulphatase A.
Brain Injuries
Decline in arylsulfatase B and Increase in chondroitin 4-sulfotransferase combine to increase chondroitin 4-sulfate in traumatic brain injury.
Brain Injuries, Traumatic
Decline in arylsulfatase B and Increase in chondroitin 4-sulfotransferase combine to increase chondroitin 4-sulfate in traumatic brain injury.
Breast Diseases
Histochemistry of estrogen sulfatases in human breast diseases.
Breast Neoplasms
17beta-hydroxysteroid dehydrogenase type 1 stimulates breast cancer by dihydrotestosterone inactivation in addition to estradiol production.
A New Therapeutic Strategy against Hormone-Dependent Breast Cancer: The Preclinical Development of a Dual Aromatase and Sulfatase Inhibitor.
A review of coumarin derivatives in pharmacotherapy of breast cancer.
Action of danazol on the conversion of estrone sulfate to estradiol and on the sulfatase activity in the MCF-7, T-47D and MDA-MB-231 human mammary cancer cells.
Aromatase inhibitors for treatment of breast cancer: current concepts and new perspectives.
Arylsulfatase A in serum from patients with cancer of various organs.
Binary and ternary crystal structure analyses of a novel inhibitor with 17beta-HSD type 1: a lead compound for breast cancer therapy.
Biological effects of progestins in breast cancer.
Biological responses of progestogen metabolites in normal and cancerous human breast.
Breast cancer and steroid metabolizing enzymes: the role of progestogens.
Breast cancer treatment and sulfotransferase.
Cancer Drug Discovery 2010: from molecules to medicine.
Comparison of estrogen concentrations, estrone sulfatase and aromatase activities in normal, and in cancerous, human breast tissues.
Concentrations of estrone, estradiol, and estrone sulfate and evaluation of sulfatase and aromatase activities in pre- and postmenopausal breast cancer patients.
Control of sulfatase activity by nomegestrol acetate in normal and cancerous human breast tissues.
Control of sulfatase and sulfotransferase activities by medrogestone in the hormone-dependent MCF-7 and T-47D human breast cancer cell lines.
Cytogenetic analysis of epithelial ovarian cancer's stem cells: an overview on new diagnostic and therapeutic perspectives.
Dehydroepiandrosterone concentration in breast cancer tissue is related to its plasma gradient across the mammary gland.
Design and synthesis of carbon-11-labeled dual aromatase-steroid sulfatase inhibitors as new potential PET agents for imaging of aromatase and steroid sulfatase expression in breast cancer.
Development of (p-O-sulfamoyl)-N-alkanoyl-phenylalkyl amines as non-steroidal estrone sulfatase inhibitors.
Direct evidence for ArO-S bond cleavage upon inactivation of Pseudomonas aeruginosa arylsulfatase by aryl sulfamates.
Dydrogesterone (Duphaston) and its 20-dihydro-derivative as selective estrogen enzyme modulators in human breast cancer cell lines. Effect on sulfatase and on 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity.
Effect of Decapeptyl (a GnRH analogue) and of transforming growth factor-alpha (TGF-alpha), in the presence of heparin, on the sulfatase activity of human breast cancer cells.
Effect of nomegestrol acetate on estrogen biosynthesis and transformation in MCF-7 and T47-D breast cancer cells.
Effects of Tibolone on Sulfatase Pathway of Estrogens Metabolism and on Growth of MCF-7 Human Breast Tumors Implanted in Ovariectomized Nude Mice.
Enzymatic control of estrogen production in human breast cancer: relative significance of aromatase versus sulfatase pathways.
Estradiol as an anti-aromatase agent in human breast cancer cells.
Estradiol inhibits the estrone sulfatase activity in normal and cancerous human breast tissues.
Estradiol-17beta sulfotransferase activity in canine osteosarcoma D17 cells.
Estrogen receptor agonists/antagonists in breast cancer therapy: A critical review.
Estrogen sulfatase and estrogen sulfotransferase in human primary mammary carcinoma.
Estrone sulfatase versus estrone sulfotransferase in human breast cancer: potential clinical applications.
Estrone sulfate and sulfatase activity in human breast cancer and endometrial cancer.
Estrone sulfate-sulfatase and 17 beta-hydroxysteroid dehydrogenase activities: a hypothesis for their role in the evolution of human breast cancer from hormone-dependence to hormone-independence.
Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors.
Evaluation of leukocyte arylsulphatase a, serum interleukin-6 and urinary heparan sulphate following tamoxifen therapy in breast cancer.
Expression of sulfotransferases and sulfatases in human breast cancer: Impact on resveratrol metabolism.
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Human Sulfatase 2 inhibits in vivo tumor growth of MDA-MB-231 human breast cancer xenografts.
Importance of estrogen sulfates in breast cancer.
In situ estrogen production via the estrone sulfatase pathway in breast tumors: relative importance versus the aromatase pathway.
In situ levels of oestrogen producing enzymes and its prognostic significance in postmenopausal breast cancer patients.
In vivo efficacy of STX213, a second-generation steroid sulfatase inhibitor, for hormone-dependent breast cancer therapy.
In vivo Inhibition of the Estrogen Sulfatase Enzyme and Growth of DMBA-Induced Mammary Tumors by Melatonin.
Increased estrogen sulfatase (STS) and 17beta-hydroxysteroid dehydrogenase type 1(17beta-HSD1) following neoadjuvant aromatase inhibitor therapy in breast cancer patients.
Inhibition of steryl sulfatase activity in LNCaP human prostate cancer cells.
Involvement of up-regulation of 17beta-hydroxysteroid dehydrogenase type 1 in maintenance of intratumoral high estradiol levels in postmenopausal breast cancers.
Lead optimization of 4-(thio)-chromenone 6-O-sulfamate analogs using QSAR, molecular docking and DFT - a combined approach as steroidal sulfatase inhibitors.
Local biosynthesis and metabolism of oestrogens in the human breast.
Matrix detachment and proteasomal inhibitors diminish Sulf-2 expression in breast cancer cell lines and mouse xenografts.
Metabolism and biologic response of estrogen sulfates in hormone-dependent and hormone-independent mammary cancer cell lines. Effect of antiestrogens.
New developments in intracrinology of human breast cancer: estrogen sulfatase and sulfotransferase.
Nomegestrol acetate is an anti-aromatase agent in human MCF-7aro breast cancer cells.
Norelgestromin as selective estrogen enzyme modulator in human breast cancer cell lines. Effect on sulfatase activity in comparison to medroxyprogesterone acetate.
Paradoxical effect of estradiol: it can block its own bioformation in human breast cancer cells.
Phase I Study of STX 64 (667 Coumate) in Breast Cancer Patients: The First Study of a Steroid Sulfatase Inhibitor.
Progestagen component in combined hormone replacement therapy in postmenopausal women and breast cancer risk: a debated clinical issue.
Progestins and breast cancer.
Quantitative analysis of aromatase, sulfatase and 17beta-HSD(1) mRNA expression in soft tissue metastases of breast cancer.
Recent data on estrogen sulfatases and sulfotransferases activities in human breast cancer.
Recent insight on the control of enzymes involved in estrogen formation and transformation in human breast cancer.
Reductive 17beta-hydroxysteroid dehydrogenases in the sulfatase pathway: critical in the cell proliferation of breast cancer.
Review of estrone sulfatase and its inhibitors--an important new target against hormone dependent breast cancer.
Role, control and expression of estrone sulfatase and 17 beta-hydroxysteroid dehydrogenase activities in human breast cancer.
Selective estrogen enzyme modulator actions of melatonin in human breast cancer cells.
Significance of Steroid Sulfatase Expression in Human Breast Cancer.
Single-nucleotide polymorphism in microRNA-binding site of SULF1 target gene as a protective factor against the susceptibility to breast cancer: a case-control study.
Steroid sulfatase inhibition success and limitation in breast cancer clinical assays: An underlying mechanism.
Sulfatase 2 facilitates lymphangiogenesis in breast cancer by regulating VEGF-D.
Sulfatase 2 promotes breast cancer progression through regulating some tumor-related factors.
Sulfatase inhibitors for recidivist breast cancer treatment: A chemical review.
The hydrolysis of estrone sulfate and dehydroepiandrosterone sulfate by MCF-7 human breast cancer cells.
The metabolism and analysis of isoflavones and other dietary polyphenols in foods and biological systems.
The SEEM: selective estrogen enzyme modulators in breast cancer.
The selective estrogen enzyme modulator (SEEM) in breast cancer.
The selective estrogen enzyme modulators in breast cancer: a review.
[Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis]
[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]
Bronchitis, Chronic
Immunoglobulins, complement and arylsulphatase in sputum from chronic bronchitis and other pulmonary diseases.
Carcinogenesis
Expression of the extracellular sulfatase SULF2 is associated with squamous cell carcinoma of the head and neck.
Heparin-degrading sulfatases in hepatocellular carcinoma: roles in pathogenesis and therapy targets.
Sulfatase 1 mediates the attenuation of Ang II-induced hypertensive effects by CCL5 in vascular smooth muscle cells from spontaneously hypertensive rats.
Sulfatase 2 up-regulates glypican 3, promotes fibroblast growth factor signaling, and decreases survival in hepatocellular carcinoma.
The extracellular sulfatase SULF2 promotes liver tumorigenesis by stimulating assembly of a promoter-looping GLI1-STAT3 transcriptional complex.
The Tumor Suppressor Function of Human Sulfatase 1 (SULF1) in Carcinogenesis.
Carcinoma
Arylsulfatase A in urine of patients with urothelial tumors.
Arylsulfatases of human-lung tumors transplanted into athymic mice. Cancer-associated modification of arylsulfatase B variant.
Association of elevated sulfatides and sulfotransferase activities with human renal cell carcinoma.
Clinical significance of a variant form of urinary arylsulfatase A.
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Estrogen sulfatase and estrogen sulfotransferase in human primary mammary carcinoma.
Expression of the Extracellular Sulfatase SULF2 Affects Survival of Head and Neck Squamous Cell Carcinoma Patients.
Expression of the extracellular sulfatase SULF2 is associated with squamous cell carcinoma of the head and neck.
Gastrointestinal Carcinoma with Plasmacytoid Morphology: Positivity for c-MET, Arylsulfatase, and Markers of Epithelial-Mesenchymal Transition, as Indicators of Aggressivity.
Intratumoral aromatase in human breast, endometrial, and ovarian malignancies.
Phosphorylation and sulfation of arylsulfatase A accompanies biosynthesis of the enzyme in normal and carcinoma cell lines.
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Steroid sulfatase and estrogen sulfotransferase in colon carcinoma: regulators of intratumoral estrogen concentrations and potent prognostic factors.
Sulfatase Activity in Normal and Neoplastic Endometrium.
The histochemical demonstration of arylsulphatase and acid hydrolases in carcinoma of the colon and the breast.
Tibolone: a compound with tissue specific inhibitory effects on sulfatase.
[Glycolipid alterations in human kidney carcinoma]
Carcinoma, Ductal, Breast
Histochemistry of estrogen sulfatases in human breast diseases.
Carcinoma, Endometrioid
Sulfatase Activity in Normal and Neoplastic Endometrium.
Carcinoma, Hepatocellular
Activation of the transforming growth factor-?/SMAD transcriptional pathway underlies a novel tumor-promoting role of sulfatase 1 in hepatocellular carcinoma.
Additive effect of apicidin and doxorubicin in sulfatase 1 expressing hepatocellular carcinoma in vitro and in vivo.
Evaluating Tumor-Associated Activity of Extracellular Sulfatase by Analyzing Naturally Occurring Substrate in Tumor Microenvironment of Hepatocellular Carcinoma.
Hepatic drug-metabolizing enzymes in primary and secondary tumors of human liver.
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.
Sulfatase 1 (hSulf-1) reverses basic fibroblast growth factor-stimulated signaling and inhibits growth of hepatocellular carcinoma in animal model.
Sulfatase 1 and sulfatase 2 in hepatocellular carcinoma: associated signaling pathways, tumor phenotypes, and survival.
Sulfatase 2 protects hepatocellular carcinoma cells against apoptosis induced by the PI3K inhibitor LY294002 and ERK and JNK kinase inhibitors.
Sulfatase 2 up-regulates glypican 3, promotes fibroblast growth factor signaling, and decreases survival in hepatocellular carcinoma.
Sulfatase 2-Induced Cancer-Associated Fibroblasts Promote Hepatocellular Carcinoma Progression via Inhibition of Apoptosis and Induction of Epithelial-to-Mesenchymal Transition.
The extracellular sulfatase SULF2 promotes liver tumorigenesis by stimulating assembly of a promoter-looping GLI1-STAT3 transcriptional complex.
The glucagon-insulin antagonism in the regulation of cytosolic protein binding to the 3' end of phosphoenolpyruvate carboxykinase mRNA in cultured rat hepatocytes. Possible involvement in the stabilization of the mRNA.
The human sulfatase 2 inhibitor 2,4-disulfonylphenyl-tert-butylnitrone (OKN-007) has an antitumor effect in hepatocellular carcinoma mediated via suppression of TGFB1/SMAD2 and Hedgehog/GLI1 signaling.
The oncogenic effect of sulfatase 2 in human hepatocellular carcinoma is mediated in part by glypican 3-dependent Wnt activation.
Transcriptional Induction of Periostin by a Sulfatase 2-TGF?1-SMAD Signaling Axis Mediates Tumor Angiogenesis in Hepatocellular Carcinoma.
Carcinoma, Ovarian Epithelial
Rs3802278 in 3'-UTR of SULF1 associated with platinum resistance and survival in Chinese epithelial ovarian cancer patients.
Carcinoma, Renal Cell
[Glycolipid alterations in human kidney carcinoma]
Carcinoma, Squamous Cell
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Expression of the Extracellular Sulfatase SULF2 Affects Survival of Head and Neck Squamous Cell Carcinoma Patients.
Expression of the extracellular sulfatase SULF2 is associated with squamous cell carcinoma of the head and neck.
Carcinoma, Transitional Cell
Arylsulfatase A in urine of patients with urothelial tumors.
Carotid Artery Diseases
Upregulation of arylsulfatase B in carotid atherosclerosis is associated with symptoms of cerebral embolization.
Cataract
Acid phosphatase II. Cytochemical localization in lenses of normal and galactose-fed rats.
Estradiol biosynthesis in canine lens epithelial cells.
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Ultrastructural cytochemistry: effect of Sorbinil on arylsulfatases in cataractous lenses.
Cerebral Palsy
Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy.
cerebroside-sulfatase deficiency
Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency.
Cholangiocarcinoma
Sulfatase 2 (SULF2) Monoclonal Antibody 5D5 Suppresses Human Cholangiocarcinoma Xenograft Growth Through Regulation of a SULF2-Platelet-Derived Growth Factor Receptor Beta-Yes-Associated Protein Signaling Axis.
Chondrodysplasia Punctata
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata.
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.
The sulfatase gene family.
X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Chorea
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Choroideremia
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.
Chronic Periodontitis
Enzyme activity in crevicular fluid for detection and prediction of clinical attachment loss in patients with chronic adult periodontitis. Six month results.
Within-mouth correlations for indicators of the host response in gingival crevicular fluid.
Colonic Neoplasms
Radioimmunoassay for arylsulfatase A in urine.
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Colorectal Neoplasms
Arylsulfatse B in colorectal cancer.
Differentiating malignant colorectal tumor patients from benign colorectal tumor patients by assaying morning urinary arylsulfatase activity.
Hepatic drug-metabolizing enzymes in primary and secondary tumors of human liver.
Radioimmunoassay for arylsulfatase A in urine.
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Congenital Disorders of Glycosylation
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation.
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.
Cystic Fibrosis
Dextran Microparticulate Inhalable Dry Powder for the Treatment of Cystic Fibrosis and Mucopolysaccharidosis.
Effect of CFTR modifiers on arylsulfatase B activity in cystic fibrosis and normal human bronchial epithelial cells.
Evaluating candidate agents of selective pressure for cystic fibrosis.
In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis.
Increased arylsulfatase B activity in cystic fibrosis cells following correction of CFTR.
Increased GPNMB, phospho-ERK1/2, and MMP-9 in cystic fibrosis in association with reduced arylsulfatase B.
Reduced Arylsulfatase B activity in leukocytes from cystic fibrosis patients.
Transcriptomic analysis of the sulfate starvation response of Pseudomonas aeruginosa.
Cystinosis
A study of the low beta-galactosidase activity in cystinotic fibroblasts: effects of cysteamine.
Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.
Cystitis
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
Deafness
Neuro-ichthyotic Syndromes: A Case Series.
Deficiency Diseases
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Dementia
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Dementia, Vascular
Arylsulphatase A pseudodeficiency in vascular dementia and Alzheimer's disease.
Demyelinating Diseases
Biochemical aspects of globoid and metachromatic leukodystrophies.
Brain Penetrable Inhibitors of Ceramide Galactosyltransferase for the Treatment of Lysosomal Storage Disorders.
Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings.
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates.
Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency.
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.
Gallbladder Polyps in Metachromatic Leukodystrophy.
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates.
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution.
Mammalian arylsulfatase A functions as a novel component of the extracellular matrix.
Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
Metachromatic leukodystrophy: a comparative study of the ultrastructural findings in the peripheral nervous system of three cases, one of the late infantile, one of the juvenile and one of the adult form of the disease.
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
Metachromatic leukodystrophy: recent research developments.
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Molecular genetics of metachromatic leukodystrophy.
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells.
Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.
Sulfatide storage in visceral organs of arylsulfatase A-deficient mice.
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].
[Familial metachromatic leukodystrophy as a cause of psychotic manifestations in young adults]
Dental Caries
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Diabetes Mellitus, Type 2
Recent insights into factors affecting remnant lipoprotein uptake.
Type 2 diabetes in mice induces hepatic overexpression of sulfatase 2, a novel factor that suppresses uptake of remnant lipoproteins.
Diffuse Cerebral Sclerosis of Schilder
METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS. IV. LOW SULFATASE ACTIVITY IN THE URINE OF NINE LIVING PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD).
Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.
Down Syndrome
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
Dyslipidemias
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Dysostoses
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Maroteaux-Lamy syndrome.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
Dysphonia
Familial spasmodic dysphonia with low arylsulphatase A (ASA) level.
Dystonia
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
Dystonic Disorders
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.
Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.
Elephantiasis, Filarial
Sequential alterations in the human eosinophil content of arylsulfatase B during therapy of Bancroftian filariasis.
Encephalitis
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Encephalomyelitis, Autoimmune, Experimental
Arylsulphatase A (EC 3.1.6.1) activity in rat central nervous system during experimental allergic encephalomyelitis.
Endometrial Neoplasms
Aberrant pre-receptor regulation of estrogen and progesterone action in endometrial cancer.
Arylsulfatase A in serum from patients with cancer of various organs.
Estrogen productivity of endometrium and endometrial cancer tissue; influence of aromatase on proliferation of endometrial cancer cells.
Estrogen sulfotransferase and sulfatase: Roles in the regulation of estrogen activity in human uterine endometrial carcinomas.
Estrone sulfatase activity in normal and neoplastic endometrial tissues of human uterus.
Estrone sulfate and sulfatase activity in human breast cancer and endometrial cancer.
Expression analysis of estrogen-metabolizing enzymes in human endometrial cancer.
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
The Significance of the Sulfatase Pathway for Local Estrogen Formation in Endometrial Cancer.
The sulfatase pathway as estrogen supply in endometrial cancer.
Endometriosis
Expression analysis of the genes involved in estradiol and progesterone action in human ovarian endometriosis.
Gonadotropin-releasing hormone agonist inhibits estrone sulfatase expression of cystic endometriosis in the ovary.
Recent advances on the action of estrogens and progestogens in normal and pathological human endometrium.
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
Eosinophilia
Variations in chemical mediators of hypersensitivity in the sputum of chronic bronchitics: correlation with peak expiratory flow.
Epilepsies, Myoclonic
Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
Essential Tremor
Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor.
Eye Diseases
Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
Fabry Disease
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Fanconi Anemia
Formation and repair of DNA interstrand cross-links in relation to cytotoxicity and unscheduled DNA synthesis induced in control and mutant human cells treated with cis-diamminedichloroplatinum(II).
Fanconi Syndrome
Urinary lysosomal enzyme excretion in pregnant women with hypertensive disorders.
Fatty Liver
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Fetal Death
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
Fetal Diseases
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.
Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region.
Fibroadenoma
Concentrations of estrone, estradiol and their sulfates, and evaluation of sulfatase and aromatase activities in patients with breast fibroadenoma.
Fibrosarcoma
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Fucosidosis
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.
Galactosemias
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Gangliosidoses
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Gangliosidoses, GM2
Brain hexosaminidase and arylsulfatase isoenzymes in normal and vitamin E-deficient rats: an hypothesis for isoenzyme patterns in GM2 gangliosidoses and MLD.
Gangliosidosis, GM1
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.
Gastrointestinal Neoplasms
Arylsulfatase A in serum from patients with cancer of various organs.
[Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis]
Gaucher Disease
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Genetic Diseases, Inborn
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI.
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Dextran Microparticulate Inhalable Dry Powder for the Treatment of Cystic Fibrosis and Mucopolysaccharidosis.
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies.
Three-dimensional structures of sulfatases.
[A rare genetic disease: multiple sulfatase deficiency]
Gingivitis
Arylsulphatase activity in human gingival crevicular fluid.
Development of a biochemical profile for gingival crevicular fluid. Methodological considerations and evaluation of collagen-degrading and ground substance-degrading enzyme activity during experimental gingivitis.
Development of a Biochemical Profile for Gingival Crevicular Fluid: Methodological Considerations and Evaluation of Collagen-Degrading and Ground Substance-Degrading Enzyme Activity during Experimental Gingivitis.
Indicators of periodontal disease activity: an evaluation.
Lactate dehydrogenase, beta-glucuronidase and arylsulfatase activity in gingival crevicular fluid associated with experimental gingivitis in man.
Glaucoma
Lacritin and other autophagy associated proteins in ocular surface health.
Glioblastoma
Measuring sulfatase expression and invasion in glioblastoma.
New Protocol-Guided Exploitation of a Lysosomal Sulfatase Inhibitor to Suppress Cell Growth in Glioblastoma Multiforme.
Glioma
Heparan sulfate sulfatase SULF2 regulates PDGFR? signaling and growth in human and mouse malignant glioma.
Inhibitory effects of melatonin on sulfatase and 17beta-hydroxysteroid dehydrogenase activity and expression in glioma cells.
Glomerulonephritis, Membranous
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
Glycogen Storage Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Glycogen Storage Disease Type II
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
Granuloma
Biochemical characterization of arylsulfatases detected in granulomatous inflammation.
Gynecomastia
On the inhibitory action of 29 drugs having side effect gynecomastia on estrogen production.
Heart Failure
Mammalian arylsulfatase A functions as a novel component of the extracellular matrix.
Heart Rupture
Association of eosinophils with cardiac rupture.
Hemochromatosis
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Hepatolenticular Degeneration
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
Heredodegenerative Disorders, Nervous System
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy.
Herpes Simplex
Herpes simplex virus and human cytomegalovirus replication in WI-38 cells. III. Cytochemical localization of lysosomal enzymes in infected cells.
Herpes Zoster
Enzymic heterogeneity of adrenocortical lysosomes: an X-ray microanalytical study.
Isolation of beta-N-acetylhexosaminidase from rabbit semen and its role in fertilization.
Sperm arylsulfatase A binds to mZP2 and mZP3 glycoproteins in a nonenzymatic manner.
The impact of oxidative stress on chaperone-mediated human sperm-egg interaction.
Ultrastructure of opossum oocyte investing coats and their sensitivity to trypsin and hyaluronidase.
Hodgkin Disease
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Hydrocephalus
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
Hydrops Fetalis
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Hyperglycinemia, Nonketotic
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hypersensitivity
Enzyme replacement therapy for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): experience in Hong Kong.
Eosinophilic leucocytes and arylsulfatase activity in bronchoalveolar lavage fluid of patients with bronchial asthma.
In vivo airway eosinophil accumulation does not enhance antigen- or propranolol-induced bronchoconstriction in guinea pigs.
[Activity of serum arylsulfatase B in nasal allergy patients]
[Study on eosinophil cationic protein (ECP) and arylsulfatase B in nasal secretions and sera from patients with nasal allergy]
Hypersensitivity, Immediate
Inactivation of slow reacting substance of anaphylaxis by human eosinophil arylsulfatase.
Isolation of human eosinophil phospholipase D.
Hypertension
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Evaluation of urinary enzyme patterns in patients with kidney diseases and primary benign hypertension.
Hypothesis: Cystic fibrosis carrier geography reflects interactions of tuberculosis and hypertension with vitamin D deficiency, altitude and temperature. Vitamin D deficiency effects and CF carrier advantage.
Urinary lysosomal enzyme excretion in pregnant women with hypertensive disorders.
Hypoadrenocorticism, Familial
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
Hypophosphatasia
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hypotension
Changes in enzyme and metabolite content of effluent perfusate during preservation of dog kidneys by Collins' method.
Hypothyroidism
[Cytochemical examination of peripheral blood neutrophils of patients with hypothyroidism]
Ichthyosis
Arylsulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis.
Autosomal dominant and X-linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity.
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein.
Disorders of keratinization: diagnosis and management.
Distinguishing ichthyoses by protein profiling.
Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms.
Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis.
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Intermediate levels of aryl sulfatase C in human leukocytes of female carriers for X-linked recessive ichthyosis.
Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).
Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Neuro-ichthyotic Syndromes: A Case Series.
New assay for steroid sulfatase (EC 3.1.6.2) and its application for studies of human placental and skin sulfatase.
Non-inactivation of an x-chromosome locus in man.
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Palmoplantar keratoderma with an unusual composition of stratum corneum and serum sterol derivatives: a new entity?
Placental steroid deficiency: association with arylsulfatase A deficiency.
Placental sulfatase deficiency and congenital ichthyosis with intrauterine fetal death: case report.
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Prediction of X-linked recessive ichthyosis due to placental sulfatase deficiency. A case report.
Rapid laboratory diagnostic of X-linked ichthyosis.
Regulation of serum testosterone in men with steroid sulfatase deficiency: response to human chorionic gonadotropin.
Serum steroid hormone levels in neonates born from the mother with placental sulfatase deficiency.
Sex-linked ichthyosis and placental sulphatase C deficiency.
Steroid sulfatase = aryl sulfatase C? Chromatographic and electrophoretic properties in extracts from placental microsomes and skin fibroblasts.
Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects.
Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.
Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis.
Sulfatase activity of keratinizing tissues in X-linked ichthyosis.
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
[Biochemical diagnosis of X chromosomal ichthyosis]
[Case of placental sulfatase deficiency--its relation to x-linked ichthyosis]
[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis]
[Placental sulfatase deficiency and sex-linked recessive ichthyosis. Two cases found in two sisters (author's transl)]
[Should we still explore placental sulfatase deficiencies? Reflections apropos of a case report]
[X-chromosomal recessive ichthyosis. Detection of heterozygote status in genetically possible carriers by determination of arylsulfatase C activity]
Ichthyosis Vulgaris
Distinguishing ichthyoses by protein profiling.
Steroid sulfatase activities in human leukocytes: biochemical and clinical aspects.
X-linked icthyosis. A sulphatase deficiency.
Ichthyosis, Lamellar
Distinguishing ichthyoses by protein profiling.
Ichthyosis, X-Linked
Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen.
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Placental steroid deficiency: association with arylsulfatase A deficiency.
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Steroid sulfatase deficiency.
Infections
Activity of some hepatic enzymes in schistosomiasis and concomitant alteration of arylsulfatase B.
Arylsulfatases in bilharziasis.
Biochemical characterization of arylsulfatases detected in granulomatous inflammation.
Does deficiency of arylsulfatase B have a role in cystic fibrosis?
Evidence for sulfate derepression of an arylsulfatase gene of Colletotrichum gloeosporioides f. sp. malvae during infection of round-leaved mallow, Malva pusilla.
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
Leishmania mexicana: a cytochemical and quantitative study of lysosomal enzymes in infected rat bone marrow-derived macrophages.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Semen Proteomics Reveals the Impact of Enterococcus faecalis on male Fertility.
[Clinical characteristics in patients with purple urine bag syndrome]
[Purple urine bag syndrome (PUBS) associated with strong alkaline urine]
Infertility
Inhibition of hamster sperm acrosomal enzyme by gossypol is closely associated with the decrease in fertilization capacity.
Insulin Resistance
Autosomal dominant familial dysbetalipoproteinemia: A pathophysiological framework and practical approach to diagnosis and therapy.
Intellectual Disability
Biochemical aspects of globoid and metachromatic leukodystrophies.
Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
Neuro-ichthyotic Syndromes: A Case Series.
Reduced arylsulphatase A activity in children with severe mental retardation.
Research on mental retardation in Norway 1970-1980: a review.
Intervertebral Disc Degeneration
Increased sulfatase 1 gene expression in degenerative intervertebral disc cells.
Keratoderma, Palmoplantar
Estrone- and dehydroepiandrosterone-sulfatase activities in human female epidermis.
Kidney Failure, Chronic
Clinical implications of genetic and acquired defects in catecholamine synthesis and metabolism.
Kidney Neoplasms
Arylsulphatase activity of human lung, liver and kidney neoplasms.
Hypoxia negatively regulates heparan sulfatase 2 expression in renal cancer cell lines.
Lafora Disease
Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient.
Leiomyoma
Differential effect of gonadotropin-releasing hormone analogue treatment on estrogen levels and sulfatase activity in uterine leiomyoma and myometrium.
[Study on the local estrogen biosynthesis in human uterine leiomyoma]
Leprosy
Identification of cat leprosy bacillus grown in mice.
Leukemia
An evaluation of nuclear arylsulfatase activity in acute leukemias.
Aryl sulfatase A in acute nonlymphocytic leukemia.
Evaluation of selected lichens from iceland for cancer chemopreventive and cytotoxic activity.
Identification and characterization of arylsulfatase A and B of the rat basophil leukemia tumor.
Leukocyte arylsulphatase A activity in acute leukemia.
Natural killer cell cytolytic granule-associated enzymes. I. Purification, characterization, and analysis of function of an enzyme with sulfatase activity.
Principal drug-metabolizing enzyme systems in L1210 leukemia sensitive or resistant to BCNU in vivo.
Processing enzymes acting on carbohydrate moiety of lysosomal hydrolases in leukemic cells: elevated activity of N-acetylglucosamine-1-phosphotransferase.
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
[Arylsulfatase A: usefulness and limitations in the differential diagnosis of leukemias]
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Expression of arylsulfatase B variant from leukocytes in chronic myelogenous leukemia related to chemotherapy.
Lysosomal arylsulfatases of human leukocytes: increment of phosphorylated B variants in chronic myelogenous leukemia.
Processing enzymes acting on carbohydrate moiety of lysosomal hydrolases in leukemic cells: elevated activity of N-acetylglucosamine-1-phosphotransferase.
Protein phosphorylation of lysosomal arylsulfatase B in normal and leukemic leukocytes.
Leukemia, Myeloid, Acute
Aryl sulfatase A in acute nonlymphocytic leukemia.
Leukodystrophy, Globoid Cell
Arylsulfatase A and beta-galactosidase activities in leukocytes and lymphocytes from normal and psychiatric subjects. Effects of blood-processing delay and interleukin-2 stimulation.
Biochemical aspects of globoid and metachromatic leukodystrophies.
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Leukodystrophy, Metachromatic
A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report.
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
A closer look at ARSA activity in a patient with metachromatic leukodystrophy.
A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy.
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.
A method for rapid detection of arylsulfatase A pseudodeficiency mutations.
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
A new analytical bench assay for the determination of arylsulfatase a activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis.
A new polymorphism of arylsulfatase A within the coding region.
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
A Novel Mutation in the Arylsulfatase A Gene Associated with Adult-Onset Metachromatic Leukodystrophy without Clinical Evidence of Neuropathy.
A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy.
A Patient With Atypical Multiple Sulfatase Deficiency.
A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A.
A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy.
A study on enzyme activities of some sphingolipidoses.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
AAV1 Mediated Co-expression of Formylglycine-Generating Enzyme and Arylsulfatase A Efficiently Corrects Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.
Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients.
Adult metachromatic leukodystrophy with an unusual relapsing-remitting course.
Adult metachromatic leukodystrophy without deficiency of arylsulphatase.
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
Advances in the molecular genetics of metachromatic leukodystrophy.
An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.
An adult onset metachromatic leukodystrophy with dominant inheritance and normal arylsulphatase A levels.
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD).
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.
An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.
An improved method for the determination of leukocyte arylsulfatase A and its application to the diagnosis of metachromatic leukodystrophy in homozygous and heterozygous states.
An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.
An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading.
An Unusual Homozygous Arylsulfatase A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient.
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
Anti-inflammatory Therapy With Simvastatin Improves Neuroinflammation and CNS Function in a Mouse Model of Metachromatic Leukodystrophy.
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing.
Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.
Arylsulfatase A activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy.
Arylsulfatase A and beta-galactosidase activities in leukocytes and lymphocytes from normal and psychiatric subjects. Effects of blood-processing delay and interleukin-2 stimulation.
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy.
Arylsulfatase A in pseudodeficiency.
Arylsulfatase A in the urine and metachromatic leukodystrophy.
Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.
Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an ?-synuclein chaperone.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate.
Arylsulphatase A and B in juvenile metachromatic leukodystrophy.
ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
Ascorbic acid-2-sulfate sulfhohydrolase activity of human arylsulfatase A.
Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Axons mediate the distribution of arylsulfatase A within the mouse hippocampus upon gene delivery.
Bile salt activation of cerebroside sulphate sulphohydrolase.
Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy.
Biochemical aspects of globoid and metachromatic leukodystrophies.
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells.
Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations.
Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy.
Brain Penetrable Inhibitors of Ceramide Galactosyltransferase for the Treatment of Lysosomal Storage Disorders.
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy.
Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML).
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy.
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.
Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings.
Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Cloning and expression of human arylsulfatase A.
Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.
Coexpression of Formylglycine-Generating Enzyme Is Essential for Synthesis and Secretion of Functional Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy.
Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy.
Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
Comparative efficacy and safety of multiple routes of direct CNS administration of adeno-associated virus gene transfer vector serotype rh.10 expressing the human arylsulfatase A cDNA to nonhuman primates.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice.
Correction of enzyme deficiency in metachromatic leukodystrophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene.
Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.
Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome.
CT and MRI in late-onset metachromatic leukodystrophy.
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.
Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice.
Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy.
Delay of myelin formation in arylsulphatase A-deficient mice.
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
Detection of arylsulfatase A in leukocytes and urines of late infantile metachromatic leukodystrophy. Report of 3 cases.
Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes.
Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.
Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.
Developing therapeutic approaches for metachromatic leukodystrophy.
Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate.
Diagnosis of arylsulfatase A deficiency.
Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.
Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques.
Diffuse-disseminated sclerosis combined with partial arylsulfatase A (ASA) deficiency. Mixed heterozygosity of ASA- and pseudo-ASA-deficiency?
Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy.
Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments.
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
Early signs of neurolipidosis-related behavioural alterations in a murine model of metachromatic leukodystrophy.
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age.
EFFICIENT INTRACEREBRAL DELIVERY OF AAV5 VECTOR ENCODING HUMAN ARSA IN NON-HUMAN PRIMATE.
Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy.
Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity.
Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy.
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy.
Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector.
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
Enzymic detection of metachromatic leukodystrophy patients and heterozygotes.
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy.
Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres.
Exocytosis of storage material in a lysosomal disorder.
Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy.
First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'.
Gallbladder cancer with ascites in a child with metachromatic leukodystrophy.
Gallbladder Polyps in Metachromatic Leukodystrophy.
Gene therapy for metachromatic leukodystrophy.
Gene therapy in metachromatic leukodystrophy.
Gene therapy of metachromatic leukodystrophy.
Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy.
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.
Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.
Genetics of metachromatic leukodystrophy.
Genotype assignments in a family with the pseudo arylsulfatase a deficiency trait without metachromatic leukodystrophy.
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.
Heterogeneity in late-onset metachromatic leukodystrophy. Effect of inhibitors of cysteine proteinases.
High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.
Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy.
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.
Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.
Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts.
Immunologic studies of arylsulfatase A in normal and metachromatic leukodystrophy liver.
Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy.
Immunological studies of sulfatase A in normals and in metachromatic leukodystrophy.
Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.
Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.
In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells.
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice.
Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency.
Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.
Induction of tolerance to human arylsulfatase a in a mouse model of metachromatic leukodystrophy.
Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection.
Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.
Intestinal involvement in metachromatic leukodystrophy.
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates.
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study.
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.
Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies.
Lacritin and other autophagy associated proteins in ocular surface health.
Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families.
Late infantile form metachromatic leukodystrophy: report of one case.
Late infantile metachromatic leukodystrophy in Israel.
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency.
Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report.
Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector.
Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy.
Low arylsulphatase A activity in a family without metachromatic leukodystrophy.
Low sulfatase activities in metachromatic leukodystrophy (MLD). A controlled study of enzymes in 9 living and 4 autopsied patients with MLD.
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.
Lysosomal storage disorders.
Lysosomal sulfoglycolipid storage in the kidneys of mice deficient for arylsulfatase A (ASA) and of double-knockout mice deficient for ASA and galactosylceramide synthase.
Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts.
Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus.
METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS. IV. LOW SULFATASE ACTIVITY IN THE URINE OF NINE LIVING PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD).
Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.
Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD.
Metachromatic leukodystrophy (MLD). X. Immunological studies of the abnormal sulfatase A.
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation.
Metachromatic leukodystrophy and arylsulphatase A: relations and discrepancies.
Metachromatic leukodystrophy and its effects on the gallbladder: a case report.
Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.
Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
Metachromatic leukodystrophy without arylsulfatase A deficiency.
Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Metachromatic leukodystrophy--an update.
Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.
Metachromatic leukodystrophy. II. Direct determination of arylsulphatase A activity in amniotic fluid.
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.
Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene.
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu?Lys, p.318Trp?Cys) arylsulfatase A mutations.
Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations.
Metachromatic leukodystrophy: consequences of sulphatide accumulation.
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Metachromatic leukodystrophy: molecular genetics and an animal model.
Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.
Metachromatic leukodystrophy: recent research developments.
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Microglia: a cellular vehicle for CNS gene therapy.
Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene.
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
Molecular basis of different forms of metachromatic leukodystrophy.
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
Molecular genetics of metachromatic leukodystrophy.
Monozygotic twins with presumed metachromatic leukodystrophy. Activity of arylsulfatase A in serum of patients and family.
Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse.
Multiple molecular forms of arylsulfatase A in different forms of metachromatic leukodystrophy (MLD).
Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy.
Multiple sulfatase deficiency with a novel biochemical presentation.
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice.
Neuropathological and enzymatic studies in a case of adult form of metachromatic leukodystrophy with very late onset of clinical symptoms.
Neurophysiology and MRI in late-infantile metachromatic leukodystrophy.
Newborn screening for lysosomal storage disorders.
Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease.
Nonclinical comparability studies of recombinant human arylsulfatase A addressing manufacturing process changes.
Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.
Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy.
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
On a rare atypical form of metachromatic leukodystrophy (MLD): "neurological non-mld patients with low levels of arylsulphatase A". Description of two cases.
Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype.
P-Nitrocatechol sulfate for arylsulfatase assay: detection of metachromatic leukodystrophy variants.
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Pharmacokinetic Modeling of Intrathecally Administered Recombinant Human Arylsulfatase A (TAK-611) in Children With Metachromatic Leukodystrophy.
Pharmacokinetics and brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor.
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy.
Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis?
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Placental steroid deficiency: association with arylsulfatase A deficiency.
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?
Population frequency of the arylsulphatase A pseudo-deficiency allele.
Potential of surfactant-coated nanoparticles to improve brain delivery of arylsulfatase A.
Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques.
Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test.
Prenatal diagnosis of pseudo arylsulphatase A deficiency.
Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells.
Prenatal metachromatic leukodystrophy.
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency?
Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.
Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.
Prevalence of partial cerebroside sulfate sulfatase (arylsulfatase A) defect in adult psychiatric patients.
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Problems in the clinical interpretation of arylsulfatase A deficiency.
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
Pseudo arylsulfatase A deficiency: evidence for a structurally altered enzyme.
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Pseudodeficiency of arylsulfatase A: a counseling dilemma.
Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.
Qualitative and quantitative differences in sulfatase A which distinguish different forms of classical metachromatic leukodystrophy (MLD).
Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD).
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography tandem mass spectrometry.
Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers.
Rapid detection of common mutation of arylsulfatase A in metachromatic leukodystrophy by polymerase chain reaction with a mismatched primer.
Reduced brain cholesterol content in arylsulfatase A-deficient mice.
Research on mental retardation in Norway 1970-1980: a review.
Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer.
Retinal pigment epithelial degeneration and arylsulfatase A deficiency.
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells.
Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.
Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy.
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations.
Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.
Site specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation.
Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy.
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder.
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
Studies in metachromatic leukodystrophy. XIII. Purification of sulfatase A from normal human liver.
Studies in metachromatic leukodystrophy. XIV. Purification and subunit structure of human liver arylsulfatase A.
Studies in metachromatic leukodystrophy: XV. Purification of normal and mutant arylsulfatase A from human liver.
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector.
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.
Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy.
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy.
Sulfogalactosylsphingosine sulfatase. Characteristics of the enzyme and its deficiency in metachromatic leukodystrophy in human cultured skin fibroblasts.
Synthesis and characterization of NBD-PS: a fluorescent analog of cerebroside arylsulfatase A deficiency disorders.
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
Synthesis and processing of arylsulfatase A in human skin fibroblasts.
Synthesis and structure-activity relationships of cerebroside analogues as substrates of cerebroside sulphotransferase and discovery of a competitive inhibitor.
Synthesis of pyrene derivatives of cerebroside sulfate and their use for determining arylsulfatase A activity.
Synthetic sulfogalactosylceramide (sulfatide) and its use for the mass spectrometric quantitative urinary determination in metachromatic leukodystrophies.
Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy.
The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients.
The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy.
The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.
The role and metabolism of sulfatide in the nervous system.
Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy.
Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy.
Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro.
Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24.
Transport of arylsulfatase a across the blood-brain barrier in vitro.
Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
Ultra-performance liquid chromatography/tandem mass spectrometry for determination of sulfatides in dried blood spots from patients with metachromatic leukodystrophy.
Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy.
Understanding the Metabolic Consequences of Human Arylsulfatase A Deficiency through a Computational Systems Biology Study.
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Urine sulfatides and the diagnosis of metachromatic leukodystrophy.
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.
Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.
[Activity of aryl sulfatase A enzyme in patients with schizophrenic disorders]
[Adult metachromatic leukodystrophy]
[Clinical, preclinical and prenatal diagnosis of congenital sphingolipidoses by determining lysosomal hydrolases (author's transl)]
[Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease]
[Diagnostic value of the determination of intraleukocytic arylsulfatase for the early detection of metachromatic leukodystrophy]
[Differentiation between arylsulfatase A deficiency and pseudo-deficiency]
[Early onset dementias: three cases]
[Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy]
[Late infantile metachromatic leukodystrophy: case report].
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
[Metachromatic leukodystrophy and multiple sulfatase deficiency]
[Molecular analysis of Japanese patients with metachromatic leukodystrophy]
[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy]
[Neuropathy in adult metachromatic leukodystrophy]
[Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy]
Leukoencephalopathies
Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.
Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy.
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography tandem mass spectrometry.
Lipidoses
Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy.
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice.
Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction.
Liver Cirrhosis
Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis.
Liver Diseases
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
The effect of liver cirrhosis on the regulation and expression of drug metabolizing enzymes.
[A study of lysosomal enzyme activities in serum and leukocytes in chronic hepatic disease (author's transl)]
Liver Neoplasms
hSulf1 Sulfatase promotes apoptosis of hepatocellular cancer cells by decreasing heparin-binding growth factor signaling.
Induction of Lysosome-associated Protein Transmembrane 4 Beta via Sulfatase 2 Enhances Autophagic Flux in Liver Cancer Cells.
Liver Neoplasms, Experimental
Isolation and comparison of arylsulfatase A from rat liver and Morris hepatoma 7777.
Lung Diseases
Immunoglobulins, complement and arylsulphatase in sputum from chronic bronchitis and other pulmonary diseases.
Lung Neoplasms
Alterations of protein kinase isozymes in transplantable human lung cancer with special reference to the phosphorylation of arylsulfatase B.
Phosphorylation of human lysosomal arylsulfatase B by cAMP-dependent protein kinase. Different sites of phosphorylation between normal and cancer tissues.
Phosphorylation on protein and carbohydrate moieties of a lysosomal arylsulfatase B variant in human lung cancer transplanted into athymic mice.
[Phosphorylation of lysosomal hydrolases in human cancer and its significance]
[Studies on charge heterogeneity of arylsulfatase A from human lung cancer]
Lymphatic Metastasis
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Lysosomal Storage Diseases
A closer look at ARSA activity in a patient with metachromatic leukodystrophy.
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Anti-inflammatory Therapy With Simvastatin Improves Neuroinflammation and CNS Function in a Mouse Model of Metachromatic Leukodystrophy.
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses.
Arylsulfatase A bound to poly(butyl cyanoacrylate) nanoparticles for enzyme replacement therapy--physicochemical evaluation.
Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI.
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: mechanical testing of long bones.
Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells.
Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations.
Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI.
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy.
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice.
Deletion of fatty acid amide hydrolase reduces lyso-sulfatide levels but exacerbates metachromatic leukodystrophy in mice.
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age.
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.
Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector.
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Gallbladder Polyps in Metachromatic Leukodystrophy.
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.
Gene therapy in metachromatic leukodystrophy.
Gene therapy of metachromatic leukodystrophy.
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Genetics of metachromatic leukodystrophy.
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.
Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.
Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.
Intestinal involvement in metachromatic leukodystrophy.
Intracerebral gene therapy using AAVrh.10-hARSA recombinant vector to treat patients with early-onset forms of metachromatic leukodystrophy: preclinical feasibility and safety assessments in non-human primates.
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study.
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration.
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu?Lys, p.318Trp?Cys) arylsulfatase A mutations.
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
Microglia: a cellular vehicle for CNS gene therapy.
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Molecular genetics of metachromatic leukodystrophy.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Mucopolysaccharidosis VI.
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice.
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.
Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.
Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
Pharmacokinetic Modeling of Intrathecally Administered Recombinant Human Arylsulfatase A (TAK-611) in Children With Metachromatic Leukodystrophy.
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.
Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer.
Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer.
Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells.
Safety of Direct Intraparenchymal AAVrh.10-Mediated Central Nervous System Gene Therapy for Metachromatic Leukodystrophy.
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Site specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro.
Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24.
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects]
[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].
Malabsorption Syndromes
[Activity of arylsulfatase and beta-glucuronidase in small intestine mucosa in children with malabsorption syndromes]
Malnutrition
Urinary excretion of arylsulfatases in malnourished/vitamin A deficient children.
Mannosidase Deficiency Diseases
Modified granulocyte test for determination of mannosidosis genotype of cattle.
Melanoma
Decline in arylsulfatase B leads to increased invasiveness of melanoma cells.
Effect of trypan blue on the activity of lysosomal enzymes, tumor growth and cell ultrastructure in B16 melanotic melanoma in mice.
Human sulfatase 1 exerts anti-tumor activity by inhibiting the AKT/ CDK4 signaling pathway in melanoma.
[Arylsulfatase activity in the blood of men with malignat melanoma. Preliminary reports].
Melanoma, Amelanotic
Activity of some lysosomal hydrolases in the homogenates of transplantable melanotic and amelanotic melanoma in golden hamster (Mesocricetus auratus, Waterhouse).
[Activity of arylsulphatase in transplantable melanotic and amelanotic melanoma in golden hamsters]
Meningioma
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.
Metabolic Diseases
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Gene therapy for metachromatic leukodystrophy.
Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis.
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector.
[Arylsulfatase deficiency and various metabolic diseases]
Metabolism, Inborn Errors
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Mitochondrial Diseases
Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations.
Mucolipidoses
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Diagnosing mucopolysaccharidosis IVA.
I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector.
Impaired phosphorylation of lysosomal enzymes in fibroblasts of patients with mucolipidosis III.
Lacritin and other autophagy associated proteins in ocular surface health.
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Mucopolysaccharidosis VI.
Synthesis and processing of arylsulfatase A in human skin fibroblasts.
The effect of (+) --cyanidanol on lysosomal enzymes of I-cell fibroblasts.
Mucopolysaccharidoses
A block of autophagy in lysosomal storage disorders.
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis.
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.
Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
Alpha-l-iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability.
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat.
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses.
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.
Arylsulfatase B-deficient mucopolysaccharidosis in rats.
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.
Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Arylsulphatases A and B in human diploid fibroblasts: differential assay with 4-methylumbelliferylsulphate and AgNO3.
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase.
Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings.
Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI.
Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene.
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
Coronary intimal sclerosis in Morquio's syndrome.
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.
Degeneration of Photoreceptor Cells in Arylsulfatase G-Deficient Mice.
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.
Dextran Microparticulate Inhalable Dry Powder for the Treatment of Cystic Fibrosis and Mucopolysaccharidosis.
Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity.
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis.
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes.
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI.
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB.
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy.
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI).
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Lacritin and other autophagy associated proteins in ocular surface health.
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.
Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant.
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by adeletion in the arylsulphatase B gene.
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme.
N-acetylglucosamine-6-sulfate sulfatase in man: deficiency of the enzyme in a new mucopolysaccharidosis.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
New insights in mucopolysaccharidosis type VI: Neurological perspective.
Newborn screening for lysosomal storage disorders.
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Pathological characteristics of mucopolysaccharidosis VI in the rat.
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
Plasma Proteomic Analysis in Morquio A Disease.
Retinal Degeneration in MPS-IIIA Mouse Model.
Sanfilippo A syndrome in the fetus.
Scalable inoculation strategies for microcarrier-based animal cell bioprocesses.
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]).
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
Thrombocytopenia associated with galsulfase treatment.
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome]
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
Mucopolysaccharidosis I
Hyaluronidase and sulfatase deficiency in Hurler's syndrome.
Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
Newborn screening for lysosomal storage disorders.
Report of a mucopolysaccharidosis occurring in Australian aborigines.
Mucopolysaccharidosis II
A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.
Bioinformatic Analysis of the Human Recombinant Iduronate 2-Sulfate Sulfatase.
Changes in glycogen and glycosaminoglycan levels in hepatocytes of iduronate-2-sulfatase knockout mice before and after recombinant iduronate-2-sulfatase supplementation.
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome.
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Genetic complementation studies of multiple sulfatase deficiency.
Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase.
Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12.
Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation.
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.
Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase.
[Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase]
Mucopolysaccharidosis III
A block of autophagy in lysosomal storage disorders.
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
Enhancing the Therapeutic Potential of Sulfamidase for the Treatment of Mucopolysaccharidosis IIIA.
Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine.
Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.
N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme.
N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered.
Newborn screening for lysosomal storage disorders.
Retinal Degeneration in MPS-IIIA Mouse Model.
Sanfilippo A syndrome in the fetus.
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Mucopolysaccharidosis IV
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease.
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Coronary intimal sclerosis in Morquio's syndrome.
Diagnosing mucopolysaccharidosis IVA.
Early neurosurgical intervention in spondyloepiphyseal dysplasias.
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Fetal presentation of Morquio disease type A.
Galactose 6-sulfate sulfatase activity in Morquio syndrome.
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
Heterogeneity of Morquio disease.
Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase.
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.
Plasma Proteomic Analysis in Morquio A Disease.
Preimplantation genetic diagnosis of Morquio disease.
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
The Morquio syndrome: neuropathology and biochemistry.
Mucopolysaccharidosis VI
A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis.
A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity.
A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients.
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy.
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.
Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat.
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI.
Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.
Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI.
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome cultured fibroblasts.
Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification.
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Arylsulfatases A and B in metachromatic leukodystrophy and Maroteaux-Lamy syndrome: studies with 4-methylumelliferyl sulfate.
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle.
Biosynthesis and maturation of arylsulfatase B in normal and mutant cultured human fibroblasts.
Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: mechanical testing of long bones.
Bone marrow transplantation in newborn rats with mucopolysaccharidosis type VI: biochemical, pathological, and clinical findings.
Bone marrow transplantation in the feline model of arylsulfatase B deficiency.
Bone-marrow transplantation in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Biochemical and clinical status 24 months after transplantation.
Cardiac and ocular pathologies in a mouse model of mucopolysaccharidosis type VI.
Case of a Mongolian child with extensive Mongolian spots in mucopolysaccharidosis type VI: Identification of a novel mutation in the arylsulfatase B gene.
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review.
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review.
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
Correction of feline arylsulphatase B deficiency (mucopolysaccharidosis VI) by bone marrow transplantation.
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.
Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.
Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI.
Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity.
Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association.
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes.
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis VI: clinical facts and figures.
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology.
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.
Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Gene therapy for mucopolysaccharidosis type VI is effective in cats without pre-existing immunity to AAV8.
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil.
Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Hydrocephalus in mucopolysaccharidosis Type VI successfully treated with endoscopic third ventriculostomy.
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Illness perception and clinical treatment experiences in patients with M. Maroteaux-Lamy (mucopolysaccharidosis type VI) and a Turkish migration background in Germany.
Improving arylsulfatase activity determination in dried blood spots: Screening and diagnostic approaches for Maroteaux-Lamy syndrome (MPS VI).
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Lacritin and other autophagy associated proteins in ocular surface health.
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer.
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Maroteaux-Lamy syndrome: orofacial features after treatment by bone marrow transplant.
Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
Mucopolysaccharide storage disease in three families of cats with arylsulfatase B deficiency: leukocyte studies and carrier identification.
Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by adeletion in the arylsulphatase B gene.
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) with hearing impairment and pupillary membrane remnants.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidosis VI.
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients.
Mutations in ARSB in MPS VI patients in India.
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
New insights in mucopolysaccharidosis type VI: Neurological perspective.
Non-clinical Safety and Efficacy of an AAV2/8 Vector Administered Intravenously for Treatment of Mucopolysaccharidosis Type VI.
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases.
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome.
Prevalence of anti-AAV8 neutralizing antibodies and ARSB cross-reactive immunologic material in MPS VI patients candidates for a gene therapy trial.
Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.
Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI.
Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome.
Restoration of arylsulphatase B activity in human mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer.
Restriction of Aerobic Metabolism by Acquired or Innate Arylsulfatase B Deficiency: A New Approach to the Warburg Effect.
Scalable inoculation strategies for microcarrier-based animal cell bioprocesses.
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings.
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]).
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.
The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report.
Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects.
Thrombocytopenia associated with galsulfase treatment.
Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome.
[A novel nonsense point mutation in the arylsulfatase B gene with a severe type Maroteaux-Lamy syndrome]
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients]
[Maroteaux-Lamy syndrome: a case report].
[Mucopolysaccharidosis type VI: clinical aspects, diagnosis and treatment with enzyme replacement therapy].
[The early diagnosis of Maroteaux-Lamy syndrome with confirmation of arylsulphatase deficiency]
Multiple Sclerosis
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies.
Case Report: Novel Arylsulfatase A (ARSA) Gene Mutations in a Patient With Adult-Onset Metachromatic Leukodystrophy Misdiagnosed as Multiple Sclerosis.
Multiple Sclerosis, Relapsing-Remitting
Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
Multiple Sulfatase Deficiency Disease
A block of autophagy in lysosomal storage disorders.
A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme.
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
A major step on the road to understanding a unique posttranslational modification and its role in a genetic disease.
A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus.
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.
A novel protein modification generating an aldehyde group in sulfatases: its role in catalysis and disease.
A Patient With Atypical Multiple Sulfatase Deficiency.
A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines.
A systematic cross-sectional survey of multiple sulfatase deficiency.
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Acid mucopolysaccharide (AMPS) abnormality in multiple sulfatase deficiency: chemical compositions of AMPS in urine and liver.
Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency.
Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays.
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Complementation of multiple sulfatase deficiency in somatic cell hybrids.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.
Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis.
De novo calcium/sulfur SAD phasing of the human formylglycine-generating enzyme using in-house data.
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.
Development and maturation of invariant NKT cells in the presence of lysosomal engulfment.
Diagnosing mucopolysaccharidosis IVA.
Difficulty in recognizing multiple sulfatase deficiency in an infant.
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders.
Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
Early manifestations of multiple sulfatase deficiency.
Early neurosurgical intervention in spondyloepiphyseal dysplasias.
Efficacy of a Combined Intracerebral and Systemic Gene Delivery Approach for the Treatment of a Severe Lysosomal Storage Disorder.
Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Expert recommendations for the laboratory diagnosis of MPS VI.
Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme.
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting.
Genetic complementation studies of multiple sulfatase deficiency.
How Does Nature Cleave Sulfuric Acid Esters? A Novel Posttranslational Modification of Sulfatases.
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.
Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?
Late infantile form of multiple sulfatase deficiency.
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis.
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
Mucopolysaccharidosis VI.
Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy.
Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma.
Multiple sulfatase deficiency (mucosulfatidosis): impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo.
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation.
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multiple sulfatase deficiency with a novel biochemical presentation.
Multiple sulfatase deficiency with early severe retinal degeneration.
Multiple sulfatase deficiency with neonatal manifestation.
Multiple sulfatase deficiency.
Multiple sulfatase deficiency: A case series of four children.
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Multiple sulfatase deficiency: bridge between neuronal storage diseases and leukodystrophies.
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs.
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies.
Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts.
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Neonatal manifestation of multiple sulfatase deficiency.
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Neuro-ichthyotic Syndromes: A Case Series.
Newborn screening for lysosomal storage disorders.
Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.
Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.
Pathologic findings of multiple sulfatase deficiency reflect the pattern of enzyme deficiencies.
Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B.
Pitfalls in the diagnosis of multiple sulfatase deficiency.
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients.
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant.
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
Rapid degradation of steroid sulfatase in multiple sulfatase deficiency.
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
Saudi variant of multiple sulfatase deficiency.
Screening patients referred to a metabolic clinic for lysosomal storage disorders.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.
Self-eating in skeletal development: implications for lysosomal storage disorders.
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Structure of a human lysosomal sulfatase.
Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency.
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
Sulfatase modifying factor 1-mediated fibroblast growth factor signaling primes hematopoietic multilineage development.
Sulfatases and human disease.
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity.
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Synthesis and stability of steroid sulfatase in fibroblasts from multiple sulfatase deficiency.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes.
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.
The sulfatase gene family.
Thiosulfate-mediated increase of arylsulfatase activities in multiple sulfatase deficiency disorder fibroblasts.
Unusual clinical presentation in two cases of multiple sulfatase deficiency.
Unusual early manifestation of multiple sulfatase deficiency.
Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis).
Various sulfatase activities in leukocytes and cultured skin fibroblasts from heterozygotes for the multiple sulfatase deficiency (mukosulfatidosis).
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life.
[A case of multiple sulfatase deficiency with fiber type disproportion]
[A rare genetic disease: multiple sulfatase deficiency]
[Cases of multiple sulfatase deficiency in sisters--biopsy findings of the sural nerve]
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
[Metachromatic leukodystrophy and multiple sulfatase deficiency]
[Multiple sulfatase deficiency]
Muscular Diseases
Metachromatic leukodystrophy caused by a partial cerebroside sulfatase.
Myeloproliferative Disorders
Gene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders.
Myocardial Infarction
Association of eosinophils with cardiac rupture.
Myocardial Ischemia
[Dynamic changes in arylsulfatase activity in the initial period of acute focal myocardial ischemia in an experiment]
Myoclonic Epilepsies, Progressive
Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.
Neoplasm Metastasis
Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation.
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
Quantitative analysis of aromatase, sulfatase and 17beta-HSD(1) mRNA expression in soft tissue metastases of breast cancer.
Significance of Steroid Sulfatase Expression in Human Breast Cancer.
Single-nucleotide polymorphism in microRNA-binding site of SULF1 target gene as a protective factor against the susceptibility to breast cancer: a case-control study.
The human sulfatase 2 inhibitor 2,4-disulfonylphenyl-tert-butylnitrone (OKN-007) has an antitumor effect in hepatocellular carcinoma mediated via suppression of TGFB1/SMAD2 and Hedgehog/GLI1 signaling.
[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]
Neoplasms
A combined approach to data mining of textual and structured data to identify cancer-related targets.
A sulfatase regulating the migratory potency of oligodendrocyte progenitor cells through tyrosine phosphorylation of beta-catenin.
Activation of the transforming growth factor-?/SMAD transcriptional pathway underlies a novel tumor-promoting role of sulfatase 1 in hepatocellular carcinoma.
Activity of some lysosomal enzymes in serum and in tumors of patients with squamous cell lung carcinoma.
Activity of some lysosomal hydrolases in the homogenates of transplantable melanotic and amelanotic melanoma in golden hamster (Mesocricetus auratus, Waterhouse).
Alterations of glycosidases in benign, premalignant and malignant human lesions.
Alterations of protein kinase isozymes in transplantable human lung cancer with special reference to the phosphorylation of arylsulfatase B.
Aromatase inhibitor development for treatment of breast cancer.
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Arylsulfatase A from human placenta possesses only high mannose-type glycans.
Arylsulfatase a from normal human lung and lung tumors showed different patterns of microheterogeneity.
Arylsulfatase A in serum from patients with cancer of various organs.
Arylsulfatase A in urine of patients with urothelial tumors.
Arylsulfatase G, a novel lysosomal sulfatase.
Arylsulfatase K, a Novel Lysosomal Sulfatase.
Arylsulfatases of human-lung tumors transplanted into athymic mice. Cancer-associated modification of arylsulfatase B variant.
Arylsulfatse B in colorectal cancer.
Arylsulphatase activity of some malignant tumors.
Characterization of human arylsulfatase A glycans.
Circulating Estrogens in Endometrial Cancer Cases and Their Relationship with Tissular Expression of Key Estrogen Biosynthesis and Metabolic Pathways.
Clinical significance of the estrogen-modifying enzymes steroid sulfatase and estrogen sulfotransferase in epithelial ovarian cancer.
Colorimetric estimation of arylsulfatase: enzyme kinetics and distribution of the enzyme in seven mammals and in tumors.
Comparison of estrogen concentrations, estrone sulfatase and aromatase activities in normal, and in cancerous, human breast tissues.
Comparison of mouse and human colon tumors with regard to phase I and phase II drug-metabolizing enzyme systems.
Cytogenetic analysis of epithelial ovarian cancer's stem cells: an overview on new diagnostic and therapeutic perspectives.
Decline in arylsulfatase B expression increases EGFR expression by inhibiting the protein-tyrosine phosphatase SHP2 and activating JNK in prostate cells.
Decline in arylsulfatase B leads to increased invasiveness of melanoma cells.
Dehydroepiandrosterone concentration in breast cancer tissue is related to its plasma gradient across the mammary gland.
Design, synthesis and biological evaluation of combretastatin A-4 sulfamate derivatives as potential anti-cancer agents.
Differentiating malignant colorectal tumor patients from benign colorectal tumor patients by assaying morning urinary arylsulfatase activity.
Dihydrotestosterone inhibits arylsulfatase B and Dickkopf Wnt signaling pathway inhibitor (DKK)-3 leading to enhanced Wnt signaling in prostate epithelium in response to stromal Wnt3A.
Discovery and Development of the Aryl O-Sulfamate Pharmacophore for Oncology and Women's Health.
Elevated activities and properties of arylsulfatases A and B and B-variant in human lung tumors.
Estrogen sulfatase.
Estrone and dehydroepiandrosterone sulfatase activities and plasma estrone sulfate levels in human breast carcinoma.
Estrone sulfate and sulfatase activity in human breast cancer and endometrial cancer.
Evaluating Tumor-Associated Activity of Extracellular Sulfatase by Analyzing Naturally Occurring Substrate in Tumor Microenvironment of Hepatocellular Carcinoma.
Evaluation of selected lichens from iceland for cancer chemopreventive and cytotoxic activity.
Evidence of in situ estrogen synthesis in nitrosomethylurea-induced rat mammary tumors via the enzyme estrone sulfatase.
Expression of 17beta-hydroxysteroid dehydrogenases and other estrogen-metabolizing enzymes in different cancer cell lines.
Expression of arylsulfatase B variant from leukocytes in chronic myelogenous leukemia related to chemotherapy.
Expression of GalCer sulfotransferase by human uterine endometrial carcinoma cell lines.
Expression of sulfotransferases and sulfatases in human breast cancer: Impact on resveratrol metabolism.
First crystal structures of human carbonic anhydrase II in complex with dual aromatase-steroid sulfatase inhibitors.
Heparan sulfate sulfatase SULF2 regulates PDGFR? signaling and growth in human and mouse malignant glioma.
Hepatic drug-metabolizing enzymes in primary and secondary tumors of human liver.
High expression of steroid sulfatase mRNA predicts poor prognosis in patients with estrogen receptor-positive breast cancer.
High-mannose-type oligosaccharides from human placental arylsulfatase A are core fucosylated as confirmed by MALDI MS.
Human Sulfatase 2 inhibits in vivo tumor growth of MDA-MB-231 human breast cancer xenografts.
Identification and characterization of arylsulfatase A and B of the rat basophil leukemia tumor.
Identification of glycoproteins from mouse skin tumors and plasma.
In situ estrogen production via the estrone sulfatase pathway in breast tumors: relative importance versus the aromatase pathway.
In vivo Inhibition of the Estrogen Sulfatase Enzyme and Growth of DMBA-Induced Mammary Tumors by Melatonin.
Increased estrogen sulfation of estradiol 17beta-D-glucuronide in metastatic tumor rat livers.
Induction of Lysosome-associated Protein Transmembrane 4 Beta via Sulfatase 2 Enhances Autophagic Flux in Liver Cancer Cells.
Inhibition of aromatase as treatment of breast carcinoma in postmenopausal women.
Inhibition of steryl sulfatase activity in LNCaP human prostate cancer cells.
Intratumoral aromatase in human breast, endometrial, and ovarian malignancies.
Involvement of up-regulation of 17beta-hydroxysteroid dehydrogenase type 1 in maintenance of intratumoral high estradiol levels in postmenopausal breast cancers.
Isolation and comparison of arylsulfatase A from rat liver and Morris hepatoma 7777.
Leukocyte arylsulphatase A activity in acute leukemia.
Mitochondrial superoxide dismutase 2 mediates ?-irradiation-induced cancer cell invasion.
Nature-derived anticancer steroids outside cardica glycosides.
New Protocol-Guided Exploitation of a Lysosomal Sulfatase Inhibitor to Suppress Cell Growth in Glioblastoma Multiforme.
Phosphorylation of human lysosomal arylsulfatase B by cAMP-dependent protein kinase. Different sites of phosphorylation between normal and cancer tissues.
Processing enzymes acting on carbohydrate moiety of lysosomal hydrolases in leukemic cells: elevated activity of N-acetylglucosamine-1-phosphotransferase.
Protein phosphorylation of human lysosomal arylsulfatase B from normal and cancer tissues.
Radioimmunoassay for arylsulfatase A in urine.
Redox State and Lysosomal Activity in Women with Ovarian Cancer with Tumor Recurrence and Multiorgan Metastasis.
Regulation of macrophage dehydroepiandrosterone sulfate metabolism by inflammatory cytokines.
Restoration of epigenetically silenced SULF1 expression by 5-aza-2-deoxycytidine sensitizes hepatocellular carcinoma cells to chemotherapy-induced apoptosis.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Separation and analysis of arylsulfatase isoenzymes in body fluids of man.
Serum sulfatase activity is more elevated in colonic adenomas than cancers.
Steroid sulfates in domestic mammals and laboratory rodents.
Steroid-converting enzymes in human ovarian carcinomas.
Sulfatase 1 and sulfatase 2 in hepatocellular carcinoma: associated signaling pathways, tumor phenotypes, and survival.
Sulfatase 1 expression in pancreatic cancer and its correlation with clinicopathological features and postoperative prognosis.
Sulfatase 2 up-regulates glypican 3, promotes fibroblast growth factor signaling, and decreases survival in hepatocellular carcinoma.
Sulfatase Activity in Normal and Neoplastic Endometrium.
Sulfate Metabolites Provide an Intracellular Pool for Resveratrol Generation and Induce Autophagy with Senescence.
The activity of arylsulfatase in some tumors of the genital organs in women.
The histochemical demonstration of arylsulphatase in human tumours.
The human sulfatase 2 inhibitor 2,4-disulfonylphenyl-tert-butylnitrone (OKN-007) has an antitumor effect in hepatocellular carcinoma mediated via suppression of TGFB1/SMAD2 and Hedgehog/GLI1 signaling.
The hydrolysis of estrone sulfate and dehydroepiandrosterone sulfate by MCF-7 human breast cancer cells.
The sulfatase pathway for estrogen formation: targets for the treatment and diagnosis of hormone-associated tumors.
The Tumor Suppressor Function of Human Sulfatase 1 (SULF1) in Carcinogenesis.
Therapeutic use of tamoxifen in advanced breast cancer: correlation with biochemical parameters.
Transcriptional Induction of Periostin by a Sulfatase 2-TGF?1-SMAD Signaling Axis Mediates Tumor Angiogenesis in Hepatocellular Carcinoma.
Unraveling Heparan Sulfate Proteoglycan Binding Motif for Cancer Cell Selectivity.
Virilizing adrenal tumor in a child suppressed with dexamethasone for three years. Effect of o,p'-DDD on serum and urinary androgens.
[Aryl sulfatase in tumor tissue and organs of mice with Crocker's sarcoma.]
[Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis]
[Arylsulfatase of peripheral blood leukocytes in patients with selected proliferative diseases of the hematopoietic system, malignant neoplasms in other organs and lupus erythematosus]
[Biochemical study on steroid sulfatase and its clinical application to the obstetrics and gynecology]
[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]
[Detection and distribution of the hydrolytic enzymes beta-D-glucuronidase, beta-D-galactosidase, beta-D-glucosidase and arylsulfatase in intracranial tumors]
[Endogenous levels and dynamics of estrogen sulfates--physiological and pathological roles of estrone sulfate and estradiol 17-sulfate]
[Molecular constitution of human arylsulfatase A and its alteration in cancer]
[Studies on charge heterogeneity of arylsulfatase A from human lung cancer]
[The influence of tumor growth on natural cytotoxicity and activity of some lysosomal enzymes of human effector cells and the C3HA mouse splenocytes]
Nephrotic Syndrome
Sulfatase 2 Is Associated with Steroid Resistance in Childhood Nephrotic Syndrome.
Nervous System Diseases
Arylsulfatase A bound to poly(butyl cyanoacrylate) nanoparticles for enzyme replacement therapy--physicochemical evaluation.
Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy.
Enzymic detection of metachromatic leukodystrophy patients and heterozygotes.
Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency.
Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients.
Neurilemmoma
[Demonstration and distribution of the enzymes: beta-D-glucuronidase, beta-D-galactosidase, beta-D-glucosidase, and arylsulfatase in neurinomas.]
Neuroblastoma
Arylsulphatase and its relation to homovanillic acid in neuroblastomas.
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Neurodegenerative Diseases
An Italian cohort study identifies four new pathologic mutations in the ARSA gene.
Artificially Induced Pluripotent Stem Cell-Derived Whole-Brain Organoid for Modelling the Pathophysiology of Metachromatic Leukodystrophy and Drug Repurposing.
Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Biochemical profiling to predict disease severity in metachromatic leukodystrophy.
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency.
Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques.
EFFICIENT INTRACEREBRAL DELIVERY OF AAV5 VECTOR ENCODING HUMAN ARSA IN NON-HUMAN PRIMATE.
Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency.
Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
Late infantile form metachromatic leukodystrophy: report of one case.
Late infantile metachromatic leukodystrophy in Israel.
Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers.
Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Pseudo arylsulfatase A deficiency. Biosynthesis of an abnormal arylsulfatase A.
Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Neurologic Manifestations
Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI.
[Late infantile metachromatic leukodystrophy: case report].
Neuronal Ceroid-Lipofuscinoses
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Lacritin and other autophagy associated proteins in ocular surface health.
Multiple sulfatase deficiency with early severe retinal degeneration.
Niemann-Pick Disease, Type C
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Niemann-Pick Diseases
Lacritin and other autophagy associated proteins in ocular surface health.
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Newborn screening for lysosomal storage disorders.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Non-alcoholic Fatty Liver Disease
Knockout of sulfatase 2 is associated with decreased steatohepatitis and fibrosis in a mouse model of nonalcoholic fatty liver disease.
Ocular Hypertension
Lacritin and other autophagy associated proteins in ocular surface health.
Osteoarthritis
Profile of glycosaminoglycan-degrading glycosidases and glycoside sulfatases secreted by human articular chondrocytes in homeostasis and inflammation.
Osteoarthritis, Knee
Lysosomal enzymes in serum and synovial fluid in patients with osteoarthritis.
Ovarian Neoplasms
Clinical significance of the estrogen-modifying enzymes steroid sulfatase and estrogen sulfotransferase in epithelial ovarian cancer.
Estrone sulfatase activity in patients with advanced ovarian cancer.
HSulf-1 modulates HGF-mediated tumor cell invasion and signaling in head and neck squamous carcinoma.
Incorporating SULF1 polymorphisms in a pretreatment CT-based radiomic model for predicting platinum resistance in ovarian cancer treatment.
Sulfated glycosaminoglycans mediate prion-like behavior of p53 aggregates.
The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases.
[Molecular constitution of human arylsulfatase A and its alteration in cancer]
Pancreatic Neoplasms
Computational and Biological Evaluation of Quinazolinone Prodrug for Targeting Pancreatic Cancer.
Enhanced levels of Hsulf-1 interfere with heparin-binding growth factor signaling in pancreatic cancer.
Sulfatase 1 expression in pancreatic cancer and its correlation with clinicopathological features and postoperative prognosis.
Papilledema
Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme((R))) therapy.
Parkinson Disease
Arylsulfatase A (ASA) in Parkinson's Disease: From Pathogenesis to Biomarker Potential.
Arylsulfatase A, a genetic modifier of Parkinson's disease, is an ?-synuclein chaperone.
Changes in plasma arylsulfatase A level as a compensatory biomarker of early Parkinson's disease.
Genetic analysis of arylsulfatase A (ARSA) in Chinese patients with Parkinson's disease.
Parkinsonian Disorders
Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor.
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
Periodontitis
Arylsulphatase activity in human gingival crevicular fluid.
Relationship of subgingival plaque flora to lysosomal and cytoplasmic enzyme activity in gingival crevicular fluid.
Peroxisomal Disorders
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pleural Effusion
Diagnostic potential of lysosomal hydrolases in body cavity effusions.
Pleurisy
Effects of several anti-inflammatory drugs on the various parameters involved in the inflammatory response in rat carrageenin-induced pleurisy.
Polychondritis, Relapsing
Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.
Polyneuropathies
Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
Polyneuropathy with antibodies to sulphatide and decreased level of arylsulphatase A.
Pre-Eclampsia
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
[Placental phenolsulfatase in pregnancy toxemias.]
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Arylsulfatase B in Kurloff cells: increased activity of anionic isoforms in guinea pig acute lymphoblastic leukemia.
Serum adenosine deaminase and arylsulphatase A as an index of early infiltration of central nervous system in acute lymphoblastic leukemia.
[Arylsulfatase A and B activity in acute lymphoblastic leukemia in children]
Pregnancy, High-Risk
Evaluation of a radioimmunoassay for serum unconjugated estriol using commercial reagents.
Premature Birth
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
Propionic Acidemia
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
Prostatic Hyperplasia
Steroid sulfate sulfatase in human benign prostatic hyperplasia: characterization and quantification of the enzyme in epithelium and stroma.
Prostatic Neoplasms
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Arylsulfatase B (N-acetylgalactosamine-4-sulfatase): potential role as a biomarker in prostate cancer.
Arylsulfatase B is reduced in prostate cancer recurrences.
Dihydrotestosterone inhibits arylsulfatase B and Dickkopf Wnt signaling pathway inhibitor (DKK)-3 leading to enhanced Wnt signaling in prostate epithelium in response to stromal Wnt3A.
Inhibition of steryl sulfatase activity in LNCaP human prostate cancer cells.
Protein Deficiency
An Unusual Homozygous Arylsulfatase A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient.
Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry.
Pulmonary Disease, Chronic Obstructive
Activity of ?1-antitrypsin and some lysosomal enzymes in the blood serum of patients with chronic obstructive pulmonary disease after smoking cessation.
Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease.
Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.
pyruvate carboxylase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Carboxylase Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
pyruvate dehydrogenase (nadp+) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Dehydrogenase Complex Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Renal Insufficiency, Chronic
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Retinal Degeneration
Multiple sulfatase deficiency with early severe retinal degeneration.
Retinal Dystrophies
Lacritin and other autophagy associated proteins in ocular surface health.
Retinitis Pigmentosa
Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19.
Multiple sulfatase deficiency with early severe retinal degeneration.
Rhinitis, Allergic, Seasonal
Major basic protein, eosinophil cationic protein, and arylsulfatase in nasal secretions of patients with Japanese cedar pollinosis.
Salpingitis
Estrone and dehydroepiandrosterone sulfatase activities in normal and pathological human endometrium biopsies.
Sandhoff Disease
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Sarcoma
[Aryl sulfatase in tumor tissue and organs of mice with Crocker's sarcoma.]
Sarcoma, Yoshida
[Histochemical studies on Yoshida sarcoma cells-polysaccharide, dehydrogenase, sulfatase, desulfurase, lipase.]
Schistosomiasis
Activity of some hepatic enzymes in schistosomiasis and concomitant alteration of arylsulfatase B.
Arylsulfatases in bilharziasis.
Sepsis
Highly increased levels of serum beta-hexosaminidase, arylsulphatase A and beta-galactosidase in a patient with sepsis.
Skin Diseases
6-[2-(adamantylidene)-hydroxybenzoxazole]-O-sulfamate, a steroid sulfatase inhibitor for the treatment of androgen- and estrogen-dependent diseases.
Smith-Lemli-Opitz Syndrome
Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Sneddon Syndrome
Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter.
Sphingolipidoses
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease.
Sphingolipidoses in Turkey.
Spinal Cord Compression
Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI.
Spinal Cord Injuries
Arylsulfatase B improves locomotor function after mouse spinal cord injury.
Squamous Cell Carcinoma of Head and Neck
Expression of the Extracellular Sulfatase SULF2 Affects Survival of Head and Neck Squamous Cell Carcinoma Patients.
Starvation
Cytochemical investigation of the digestive gland of two strombidae species (Strombus gigas and Strombus pugilis) in relation to the nutrition.
Genetic interactions between regulators of Chlamydomonas phosphorus and sulfur deprivation responses.
Lysosomal enzyme activities in muscle following starvation and refeeding in the saithe Pollachius virens L.
Purification and biosynthesis of a derepressible periplasmic arylsulfatase from Chlamydomonas reinhardtii.
Regulation of the sulfate starvation response in Pseudomonas aeruginosa: role of cysteine biosynthetic intermediates.
steryl-sulfatase deficiency
Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen.
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
Placental steroid deficiency: association with arylsulfatase A deficiency.
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Steroid sulfatase deficiency.
Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.
Stomach Neoplasms
Arylsulfatase, betagalactosidase and lysozyme in gastric cancer cells and its relationship to invasion.
Sulfatidosis
Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy).
Rapid method for measuring arylsulfatase A and B in leucocytes as a diagnosis for sulfatidosis, mucosulfatidosis and mucopolysaccharidosis VI.
Tay-Sachs Disease
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.
Teratoma
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease.
Testicular Neoplasms
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
transaldolase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Tuberculosis
An alpha-formylglycine building block for fmoc-based solid-phase peptide synthesis.
Does deficiency of arylsulfatase B have a role in cystic fibrosis?
Evaluating candidate agents of selective pressure for cystic fibrosis.
Expression and functional analysis of a predicted AtsG arylsulfatase identified from Mycobacterium tuberculosis genomic data.
Hypothesis: Cystic fibrosis carrier geography reflects interactions of tuberculosis and hypertension with vitamin D deficiency, altitude and temperature. Vitamin D deficiency effects and CF carrier advantage.
Mycobacterium tuberculosis AtsG (Rv0296c), GlmU (Rv1018c) and SahH (Rv3248c) Proteins Function as the Human IL-8-Binding Effectors and Contribute to Pathogen Entry into Human Neutrophils.
[Differentiation between Mycobacterium tuberculosis and Mycobacterium bovis by means of an arylsulphatase test]
Urethritis
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
Urinary Bladder Neoplasms
Arylsulfatase A activities in urine and tissues taken from bladder cancer patients.
Arylsulfatase A activity of urine in patients with various genitourinary tract disorders.
Clinical significance of a variant form of urinary arylsulfatase A.
[Studies on arylsulfatase A of bladder cancer]
Urinary Tract Infections
[Clinical characteristics in patients with purple urine bag syndrome]
[Purple urine bag syndrome (PUBS) associated with strong alkaline urine]
Usher Syndromes
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Decoding the consecutive lysosomal degradation of 3-O-sulfate containing heparan sulfate by Arylsulfatase G (ARSG).
Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome.
Uterine Cervical Neoplasms
Genetic variations in the SULF1 gene alter the risk of cervical cancer and precancerous lesions.
Virus Diseases
Common Genetic Variants and Risk for HPV Persistence and Progression to Cervical Cancer.
Vision Disorders
Multiple sulfatase deficiency with early severe retinal degeneration.
Vitamin A Deficiency
Alterations in surface carbohydrates and in some functional properties of liver lysosomal membrane in vitamin A-deficient rat.
Studies on urinary arylsulphatase activity in vitamin A deficient rats.
Urinary excretion of arylsulfatases in malnourished/vitamin A deficient children.
Vitamin E Deficiency
Aryl sulfatase in vitamin E deficiency and in amyotrophic lateral sclerosis.
Wilms Tumor
[Glycolipid alterations in human kidney carcinoma]
Wolman Disease
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.