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Disease on EC 3.1.1.26 - galactolipase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Amyotrophic Lateral Sclerosis
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Angiokeratoma
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.
Angiokeratoma corporis diffusum.
Breast Neoplasms
Tn antigen and UDP-Gal:GalNAc alpha-R beta 1-3Galactosyltransferase expression in human breast carcinoma.
Bulbo-Spinal Atrophy, X-Linked
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Carcinoma
A galactosidase immunosorbent test for carcinoembryonic antigen.
Carcinoma, Ovarian Epithelial
[Analysis of gene expression profiles among 3 epithelial ovarian tumor subtypes using cDNA and tissue microarrays]
Cardiomyopathy, Hypertrophic
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy.
Communicable Diseases
A smartphone dongle for diagnosis of infectious diseases at the point of care.
Application of nanodiagnostics in point-of-care tests for infectious diseases.
Cysts
Analysis of the transcriptome of the root lesion nematode Pratylenchus coffeae generated by 454 sequencing technology.
Dehydration
Postharvest ethylene treatment affects berry dehydration, polyphenol and anthocyanin content by increasing the activity of cell wall enzymes in Aleatico wine grape
Diabetic Ketoacidosis
Smartphone-Powered Electrochemical Dongle for Point-of-Care Monitoring of Blood ?-Ketone.
Disorders of Sex Development
Sex differences in autophagy-mediated diseases: toward precision medicine.
Fabry Disease
A Case of a 49-Year-Old Man with Nonclassical Fabry Disease Diagnosed by Renal Biopsy.
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
A novel mutation and in vivo confocal microscopic findings in Fabry disease.
Age adjusting severity scores for Anderson-Fabry disease.
Angiokeratoma corporis diffusum.
Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme replacement therapy using recombinant human galactosidase A.
Cardiac magnetic resonance imaging in patients with Fabry's disease.
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.
Clinical spectrum of Anderson Fabry disease in a Romanian family.
Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote.
Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A.
Diagnosing lysosomal storage disorders: Fabry disease.
Differential diagnosis of left ventricular hypertrophy: usefulness of multimodality imaging and tissue characterization with cardiac magnetic resonance.
Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?
Early Renal Involvement in a Girl with Classic Fabry Disease.
Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature.
Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease.
Fabry Cardiomyopathy: Current Practice and Future Directions.
Fabry Disease and G6PD in Three Family Members with Priapism: Is the Nitric Oxide Pathway to Blame?
Fabry disease and kidney involvement: starting from childhood to understand the future.
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.
Fabry disease.
Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.
Fabry disease: cardiac manifestations and therapeutic options.
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
Generation of a GLA knock-out human-induced pluripotent stem cell line, KSBCi002-A-1, using CRISPR/Cas9.
Genetics and Gene Therapy of Anderson-Fabry Disease.
GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Major Organic Involvement in Women with Fabry Disease in Argentina.
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Multiple parapelvic cysts in Fabry disease.
MULTIPLE SCLEROSIS OR FABRY DISEASE - PROS AND CONS.
Neurological presentation of Fabry's disease in a 52 year old man.
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Previously Unreported in Women Galactosidase Alpha Pro409Ser Variant Is Associated With Fabry Disease.
Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.
Small fiber dysfunction predominates in Fabry neuropathy.
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.
The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.
The utility of the FIPI score in predicting long-term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy with agalsidase alfa.
Unexplored regulatory sequences of divergently paired GLA and HNRNPH2 loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter.
[Atypical phenotype of Fabry disease. Evidence of a new mutation]
[Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature].
[Evaluation of patients with Fabry disease in Argentina]
[Fabry disease in cardiology: Diagnosis and therapeutic approaches].
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
[Quantification and speciation of globotriaosylceramide.]
[Renal involvement in Fabry disease]
[The switch of enzyme therapy in Fabry disease].
galactolipase deficiency
Galactosialidosis in two siblings.
Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
[Gaucher's and Fabry's diseases: biochemical and genetic aspects]
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Gangliosidosis, GM1
Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].
Genetic Diseases, Inborn
Genetics and Gene Therapy of Anderson-Fabry Disease.
Glioblastoma
Induction of senescence in primary glioblastoma cells by serum and TGF?.
Inhibition of glioma growth by flavokawain B is mediated through endoplasmic reticulum stress induced autophagy.
Glioma
A novel colorimetric assay for CXCR4 and CCR5 tropic human immunodeficiency viruses.
Gout
Palm-Sized Uric Acid Test Lab Powered by Smartphone for Proactive Gout Management.
Huntington Disease
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Infections
A smartphone dongle for diagnosis of infectious diseases at the point of care.
Automated measurement of immunogalactosidase reactions with a fluorogenic substrate by the aperture defined microvolume measurement method and its potential application to Schistosoma mansoni immunodiagnosis.
HIV-1 protease does not play a critical role in the early stages of HIV-1 infection.
Influenza in Birds
Effects of receptor binding specificity of avian influenza virus on the human innate immune response.
Insulin Resistance
Increased fat mass and insulin resistance in mice lacking pancreatic lipase-related protein 1.
Ischemic Stroke
An intronic haplotype in ? galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.
Joint Diseases
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Leukemia
Leukemia cells apoptosis by a newly discovered heterogeneous polysaccharide from Angelica sinensis (Oliv.) Diels.
Leukodystrophy, Globoid Cell
Additional deficiency of psychosine galactosidase in globoid cell leukodystrophy: an implication to enzyme replacement therapy.
Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase.
Lysosomal Storage Diseases
A novel mutation and in vivo confocal microscopic findings in Fabry disease.
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes.
Intermittent enzyme replacement therapy prevents Neu1 deficiency.
Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
Multidisciplinary approach to Fabry disease: from the eye of a neurologist.
Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene.
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.
Macular Degeneration
[Vitteliform macular dystrophy and variations in serum galactosidase activity (author's transl)]
Mesothelioma
Transfer into a mesothelioma cell line of tumor suppressor gene p16 by cholesterol-based cationic lipids.
Metabolic Diseases
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Mucolipidoses
[Sialidosis type I. Two cases in a family]
Muscular Atrophy
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neoplasms
Autophagy drives fibroblast senescence through MTORC2 regulation.
Morphological and Functional Characteristic of Senescent Cancer Cells.
Optical imaging of progenitor cell homing to patient-derived tumors.
Selective gene expression in hepatic tumor with trans-arterial delivery of DNA/liposome/transferrin complex.
Neuroblastoma
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Neurodegenerative Diseases
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Niemann-Pick Diseases
Alpha galactosidase A activity in Parkinson's disease.
Identification of luminal and secreted proteins in bull epididymis.
Obesity
Increased fat mass and insulin resistance in mice lacking pancreatic lipase-related protein 1.
Osteosarcoma
The effect of Zhangfei on the unfolded protein response and growth of cells derived from canine and human osteosarcomas.
Parkinson Disease
Alpha galactosidase A activity in Parkinson's disease.
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Parkinsonian Disorders
Sex differences in autophagy-mediated diseases: toward precision medicine.
Prostatic Neoplasms
Identification of potential diagnostic markers of prostate cancer and prostatic intraepithelial neoplasia using cDNA microarray.
Proteinuria
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.
Pseudorabies
Studies of the central neural pathways to the stomach and Zusanli (ST36).
Pulmonary Disease, Chronic Obstructive
The cyclooxygenase-2-prostaglandin e2 pathway maintains senescence of chronic obstructive pulmonary disease fibroblasts.
Relative Energy Deficiency in Sport
Exosomal Notch3 from high glucose-stimulated endothelial cells regulates vascular smooth muscle cells calcification/aging.
Rheumatic Diseases
[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]
Schistosomiasis mansoni
Automated measurement of immunogalactosidase reactions with a fluorogenic substrate by the aperture defined microvolume measurement method and its potential application to Schistosoma mansoni immunodiagnosis.
Spinocerebellar Ataxias
Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration.
Syphilis
A smartphone dongle for diagnosis of infectious diseases at the point of care.
Uterine Cervical Neoplasms
Peltophorum africanum, a traditional South African medicinal plant, contains an anti HIV-1 constituent, betulinic acid.