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Disease on EC 3.2.1.45 - glucosylceramidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abortion, Spontaneous
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).
The management of pregnancy in Gaucher disease.
Acne Vulgaris
Pharmaceutical approval update.
Adrenoleukodystrophy
Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases.
alpha-n-acetylglucosaminidase deficiency
Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.
Alzheimer Disease
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
The relationship between glucocerebrosidase mutations and Parkinson disease.
Amyotrophic Lateral Sclerosis
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
Anaphylaxis
Anaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patient.
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
Anemia
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage.
Gaucher's disease and pregnancy.
Gaucher's disease: a paradigm for interventional genetics.
Imiglucerase and its use for the treatment of Gaucher's disease.
Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Ophthalmological findings in Gaucher disease.
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
[A retrospective study on enzyme replacement therapy in patients with Gaucher disease]
[Gaucher disease: clinical, genetic and therapeutic aspects]
[Therapeutic objectives in Gaucher disease]
Anosmia
Cognition among individuals along a spectrum of increased risk for Parkinson's disease.
Aortic Valve Disease
[Gene polymorphisms leading to calcified and stenotic aortic valves]
Aortic Valve Stenosis
[Gene polymorphisms leading to calcified and stenotic aortic valves]
Arteriovenous Malformations
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.
Arthrogryposis
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.
Astrocytoma
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
Ataxia
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes.
Bicuspid Aortic Valve Disease
[Gene polymorphisms leading to calcified and stenotic aortic valves]
Bone Diseases
Effective cell and gene therapy in a murine model of Gaucher disease.
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low-dose enzyme replacement therapy.
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice.
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy.
Bone Diseases, Metabolic
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
Bone Marrow Failure Disorders
Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase.
Carcinoma, Hepatocellular
Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system.
Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.
Cholangiocarcinoma
Cholangiocarcinoma occurring in a patient with type 1 Gaucher disease treated with velaglucerase alfa enzyme replacement therapy: First case report.
Corneal Opacity
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Corticobasal Degeneration
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.
Cough
Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment.
Cystic Fibrosis
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
Deafness
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Dementia
?-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.
Association of glucocerebrosidase mutations with dementia with lewy bodies.
Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
Clinical implications for dopaminergic and functional neuroimage research in cognitive symptoms of Parkinson's disease.
Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers.
D409H GBA1 mutation accelerates the progression of pathology in A53T ?-synuclein transgenic mouse model.
Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?
Effects of glucocerebrosidase gene polymorphisms and mutations on the risk of Parkinson's disease dementia: A meta-analysis.
Frequency of
Gaucher disease and the synucleinopathies.
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.
Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.
Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.
Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Mutant GBA1 Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models.
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Parkinsonism, dementia and glucocerebrosidase mutations.
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Recent advances in the genetics of dementia with lewy bodies.
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
Survival and dementia in GBA-associated Parkinson Disease: The mutation matters.
The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews.
The Genetic Basis of Cognitive Impairment and Dementia in Parkinson's Disease.
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Tool Compounds Robustly Increase Turnover of an Artificial Substrate by Glucocerebrosidase in Human Brain Lysates.
Variants associated with Gaucher disease in multiple system atrophy.
What can biomarkers tell us about cognition in Parkinson's disease?
Wild-type GBA1 increases the ?-synuclein tetramer-monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice.
Dermatitis, Atopic
Reevaluation of the non-lesional dry skin in atopic dermatitis by acute barrier disruption: an abnormal permeability barrier homeostasis with defective processing to generate ceramide.
DiGeorge Syndrome
[Gene polymorphisms leading to calcified and stenotic aortic valves]
Dyspnea
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.
Encephalitis
Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.
Epilepsies, Myoclonic
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
Essential Tremor
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.
Exanthema
Anaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patient.
Fabry Disease
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability.
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.
Intravenous enzyme replacement therapy: better in home or hospital?
Limitations of enzyme replacement therapy: Current and future.
Lysosomal storage diseases.
pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases.
[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]
Fibrosarcoma
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
Frontotemporal Dementia
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.
galactolipase deficiency
[Gaucher's and Fabry's diseases: biochemical and genetic aspects]
Gaucher Disease
'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.
13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease.
1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.
2,3-di-O-tetradecyl-1-O-(beta-D-glucopyranosyl)-sn-glycerol is a substrate for human glucocerebrosidase.
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
99mTc-MDP Bone Scintigraphy in Gaucher Disease.
?-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
A 27-year experience with splenectomy for Gaucher's disease.
A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase.
A bicistronic therapeutic retroviral vector enables sorting of transduced CD34+ cells and corrects the enzyme deficiency in cells from Gaucher patients.
A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver.
A case of improved hearing with cochlear implantation in Gaucher disease type 1.
A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types.
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
A chimeric mouse model of Gaucher disease.
A common and two novel GBA mutations in Thai patients with Gaucher disease.
A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived beta-glucocerebrosidase: implications for clinical efficacy in treatment of Gaucher disease.
A comprehensive assessment of renal function in patients with Gaucher disease.
A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.
A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin.
A feedforward loop links Gaucher and Parkinson's diseases?
A flow cytometric assay enabling specific detection of the human lysosomal enzyme, beta-glucocerebrosidase.
A flow cytometric assay for lysosomal glucocerebrosidase.
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide.
A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites.
A less costly regimen of alglucerase to treat Gaucher's disease.
A lysosomal lair for a pathogenic protein pair.
A microfluidic device with fluorimetric detection for intracellular components analysis.
A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability.
A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.
A multicenter, open-label, phase III study of Abcertin in Gaucher disease.
A Mutation in SCARB2 is a Modifier in Gaucher Disease.
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
A neurological symptom survey of patients with type I Gaucher disease.
A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
A New Glucocerebrosidase Chaperone Reduces ?-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease.
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease.
A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease.
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation.
A practical approach to diagnosis and management of Gaucher's disease.
A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients.
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.
A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase.
A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases.
A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease.
A simple and efficient purification of transduced cells by using green fluorescent protein gene as a selection marker.
A study of acid beta-glucosidase in a patient with Gaucher disease and leukemia.
A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease.
Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.
Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase.
Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience.
Acid beta-glucosidase and the diagnosis of Gaucher's disease in liver and spleen.
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy.
Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
Acid phosphatase isoenzymes in Gaucher's disease.
Acquired Gaucher's cells in Hodgkin's disease.
Action of monensin, a monovalent cationophore, on cultured human fibroblasts: evidence that it induces high cellular accumulation of glucosyl- and lactosylceramide (gluco- and lactocerebroside).
Activation of human spleen glucocerebrosidases by monoacylglycol sulfates and diacylglycerol sulfates.
Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease.
Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients.
Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
Alglucerase enzyme replacement therapy used safely and effectively throughout the whole pregnancy of a Gaucher disease patient.
Alglucerase for Gaucher's disease.
Alglucerase for Gaucher's disease: dose, costs and benefits.
Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement.
Alglucerase. A pharmacoeconomic appraisal of its use in the treatment of Gaucher's disease.
Alglucerase. A review of its therapeutic use in Gaucher's disease.
Alglucerase: practical guidance on appropriate dosage and administration in patients with Gaucher disease.
Allogenic bone marrow transplantation in severe Gaucher disease.
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
Altered level of plasma exosomes in patients with Gaucher disease.
Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease.
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Ambroxol effects in glucocerebrosidase and ?-synuclein transgenic mice.
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease.
An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease.
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen.
An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease.
An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside.
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.
Analyses of Variant Acid beta-Glucosidases: EFFECTS OF GAUCHER DISEASE MUTATIONS.
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.
Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
Analysis of the ?-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Animal models for Gaucher disease research.
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase.
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation.
Assay of glucocerebrosidase using a fluorescent analogue of glucocerebroside for the diagnosis of Gaucher disease.
Assessment of Bone Health in Patients with Type 1 Gaucher Disease Using Impact Microindentation.
Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.
Autophagy in Gaucher disease due to saposin C deficiency.
Autosomal recessive mutations in the development of Parkinson's disease.
Beta Thalassemia Major with Gaucher's Disease: A Rare Entity.
Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia.
beta-Glucosidase assays in the diagnosis of Gaucher's disease.
beta-Glucosidase isoenzymes in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with type 1 Gaucher disease.
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.
Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages.
Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease.
Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage.
Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme.
Bioproduction of human enzymes in transgenic tobacco.
Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts.
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase.
Bone disease in patients with Gaucher disease.
Bone marrow microenvironment in an in vitro model of Gaucher Disease: consequences of Glucocerebrosidase deficiency.
Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: early Access Program results from Jerusalem.
Brain glucocerebrosidase in Gaucher's disease.
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?
Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
Calcium phosphate-alginate microspheres as enzyme delivery matrices.
Calmodulin and parvalbumin: activators of human liver glucocerebrosidase.
CD4(+)CD25(high)Foxp3(+) Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis.
Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.
Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation.
Ceredase dosing concerns for Gaucher's disease.
Cessation of enzyme replacement therapy in Gaucher disease.
Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat.
Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism.
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Characterization of Gene-activated Human Acid-{beta}-Glucosidase: Crystal Structure, Glycan Composition and Internalization into Macrophages.
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.
Characterization of glucocerebrosidase in peripheral blood cells and cultured blastoid cells.
Characterization of neuronopathic Gaucher disease among ethnic Poles.
Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.
Characterization of the N370S Mutant of Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry.
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity.
Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.
Cholangiocarcinoma occurring in a patient with type 1 Gaucher disease treated with velaglucerase alfa enzyme replacement therapy: First case report.
Cholelithiasis in a patient with type 2 Gaucher disease.
Cholelithiasis in patients with Gaucher disease.
Chronic Gaucher's disease: heat-resistance of leukocyte glucocerebrosidase in relation to some clinical parameters.
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement.
Clinical and genetic characteristics of Korean patients with Gaucher disease.
Clinical and molecular aspects of Gaucher disease in New Zealand.
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.
Co-morbidity in Gaucher's disease results of a nationwide enquiry in Spain.
Coagulation abnormalities in type 1 Gaucher disease in children.
Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease.
Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease.
Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia.
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease.
Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease.
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
Comparison of rates of hydrolysis of N-oleoyl and N-stearoyl glucocerebroside in patients with Gaucher's disease.
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene".
Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant.
Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy.
Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.
Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease.
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol.
Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
Coxarthritis as the presenting symptom of Gaucher disease type 1.
Creating genetics-based infusion centers: a case study of two models.
Creating the costliest orphan. The Orphan Drug Act in the development of Ceredase.
Critical Evaluation of Strategies for the Production of Blood Coagulation Factors in Plant-Based Systems.
Cross-reacting material in Gaucher disease fibroblasts.
Cross-talks among GBA mutations, glucocerebrosidase, and ?-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.
Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease.
Crystallization and preliminary X-ray analysis of recombinant human acid beta-glucocerebrosidase, a treatment for Gaucher's disease.
Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.
Cytokine mRNA in Gaucher disease.
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease.
Decrease of plasma taurine in Gaucher disease and its sustained correction during enzyme replacement therapy.
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases.
Defective Self-Renewal and Differentiation of GBA-Deficient Neural Stem Cells Can Be Restored By Macrophage Colony-Stimulating Factor.
Deficiency of glucosylsphingosine: beta-glucosidase in Gaucher disease.
Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease.
Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease.
Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.
Delivery, distribution, and neuronal uptake of exogenous mannose-terminal glucocerebrosidase in the intact rat brain.
Demographic Studies from a National Gaucher Disease Screening Program.
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).
Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model.
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease.
Dental observations in Gaucher's disease: review of the literature and two case reports with 13- and 60-year follow-ups.
Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
Detection and isolation of gene-corrected cells in Gaucher disease via a fluorescence-activated cell sorter assay for lysosomal glucocerebrosidase activity.
Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gaucher's disease.
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
Determination of Gaucher's disease phenotypes with monoclonal antibody.
Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease.
Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.
Development of safe and efficient retroviral vectors for Gaucher disease.
Developmental changes of glycosidase activities in rat renal cortex.
Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages.
Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.
Diagnosis of adult Gaucher disease: use of a new chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside, in cultured skin fibroblasts.
Diagnosis of lysosomal storage disorders: Gaucher disease.
Differences in origin of the 1448C mutation in patients with Gaucher disease.
Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease.
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.
Direct Site-Specific Glycoform Identification and Quantitative Comparison of Glycoprotein Therapeutics: Imiglucerase and Velaglucerase Alfa.
Discrepancies between genotype and phenotype in hematology: an important frontier.
Disease state awareness in Gaucher disease: a q&a expert roundtable discussion.
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice.
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.
Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.
Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease.
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss.
Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease.
Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease.
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
Early diagnosis of Gaucher disease based on bone symptoms
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy.
Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease.
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.
Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease.
Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease.
Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease.
Effective cell and gene therapy in a murine model of Gaucher disease.
Effective desensitization to imiglucerase in a patient with type I Gaucher disease.
Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review.
Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease.
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes.
Effects of switching from imiglucerase to velaglucerase alfa without dose reduction nor wash out in type 1 Gaucher disease.
Efferocytosis is impaired in Gaucher macrophages.
Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.
Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.
Electrophoresis of glucocerebrosidase from normal and Gaucher disease fibroblasts.
Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease.
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models.
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Emerging therapeutic targets for Gaucher disease.
Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.
Endosperm-specific expression of human acid beta-glucosidase in a waxy rice.
Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing.
Enhanced calcium release in the acute neuronopathic form of Gaucher disease.
Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease.
Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease.
Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia.
Enzyme replacement and gene therapy for Gaucher's disease.
Enzyme replacement and substrate reduction therapy for Gaucher disease.
Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia.
Enzyme replacement therapy for Gaucher disease in Australia.
Enzyme replacement therapy for Gaucher disease.
Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase.
Enzyme replacement therapy for Gaucher's disease.
Enzyme Replacement Therapy in a Gaucher Family.
Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment.
Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase.
Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration.
Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation.
Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease.
Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease.
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months.
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Enzyme therapy in Gaucher disease type 2: an autopsy case.
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease.
Epidemiology and natural history of Gaucher's disease.
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.
Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE).
Evaluation of Estimation Methods and Power of Tests of Discrete Covariates in Repeated Time-to-Event Parametric Models: Application to Gaucher Patients Treated by Imiglucerase.
Evaluation of neopterin as a biomarker for the monitoring of Gaucher disease patients.
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage.
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging.
Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model.
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype.
Experiences after long-term treatment of a type I Gaucher disease patient with liposome-entrapped glucocerebroside: beta-glucosidase.
Exploring genetic modifiers of Gaucher disease: The next horizon.
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.
Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye.
Expression of human glucocerebrosidase in murine macrophages: identification of efficient retroviral vectors.
Expression of mutated glucocerebrosidase alleles in human cells.
Extended interval between enzyme therapy infusions for adult patients with Gaucher's disease type 1.
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.
Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages.
False-positive results using a Gaucher diagnostic kit--RecTL and N370S.
Fate and sorting of acid beta-glucosidase in transgenic mammalian cells.
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.
Features of
Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report.
First long-term results of imiglucerase therapy of type 1 Gaucher disease.
FKBP10 Depletion Enhances Glucocerebrosidase Proteostasis in Gaucher Disease Fibroblasts.
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.
Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease.
Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Functionalized Cyclophellitols Are Selective Glucocerebrosidase Inhibitors and Induce a Bona Fide Neuropathic Gaucher Model in Zebrafish.
Future perspectives for glycolipid research in medicine.
Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages.
Gaucher disease - bone involvement.
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Gaucher disease and bone manifestations.
Gaucher disease and cancer: concept and controversy.
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Gaucher disease and multiple myeloma.
Gaucher disease and myeloma.
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
Gaucher disease and the synucleinopathies.
Gaucher disease and the synucleinopathies: refining the relationship.
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies.
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
Gaucher disease in the liver on hepatocyte specific contrast agent enhanced MR imaging.
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Gaucher disease mutations in non-Jewish patients.
Gaucher disease paradigm: From ERAD to comorbidity.
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient.
Gaucher disease type 3c: New patients with unique presentations and review of the literature.
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null RecNciI GBA mutations.
Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.
Gaucher disease, enzyme replacement therapy, and the Patient Assistance Program.
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
Gaucher disease.
Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients.
Gaucher disease. Unusual presentation and mini-review.
Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report).
Gaucher disease: a century of delineation and research. Enzyme replacement therapy: model and clinical studies.
Gaucher disease: a comprehensive review.
Gaucher disease: A diagnostic challenge for internists.
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
Gaucher disease: a lysosomal neurodegenerative disorder.
Gaucher disease: a membranous enzymopathy.
Gaucher disease: a model disorder for biomarker discovery.
Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
Gaucher disease: an overview of clinical characteristics and therapy.
Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.
Gaucher disease: complexity in a "simple" disorder.
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
Gaucher disease: four families with previously undescribed mutations.
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
Gaucher disease: haematological presentations and complications.
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.
Gaucher disease: insights from a rare Mendelian disorder.
Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue.
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Gaucher disease: multiple lessons from a single gene disorder.
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.
Gaucher disease: pathological mechanisms and modern management.
Gaucher disease: Progress and ongoing challenges.
Gaucher disease: review of the literature.
Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts.
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase.
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.
Gaucher disease: unmet treatment needs.
Gaucher's disease affecting the mandible and maxilla. Report of a case.
Gaucher's Disease and Cancer: A Sphingolipid Perspective.
Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations?
Gaucher's disease and pregnancy.
Gaucher's disease in Lithuania: its diagnosis and treatment.
Gaucher's disease in pregnancy.
Gaucher's disease in the presence of normal glucocerebrosidase activity.
Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.
Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease.
Gaucher's disease with uncommon presentations.
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report.
Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis.
Gaucher's disease: a disease with chronic stimulation of the immune system.
Gaucher's disease: a review for the internist and hepatologist.
Gaucher's disease: a review.
Gaucher's disease: clinical features and natural history.
Gaucher's disease: lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase.
Gaucher's disease: lack of antibody response to intravenous glucocerebrosidase.
Gaucher's disease: past, present and future.
Gaucher's disease: report of 11 cases with review of literature.
Gaucher's disease: the best laid schemes of mice and men.
Gaucher's disease: therapy by intravenous infusions of modified glucocerebrosidase.
Gaucher-Associated Parkinsonism.
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
GBA1-associated parkinsonism: new insights and therapeutic opportunities.
GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.
Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.
Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
Gene transfer and bone marrow transplantation with special reference to Gaucher's disease.
Gene transfer-mediated generation of drug-resistant hemopoiesis.
Generation of a Chinese hamster ovary cell line producing recombinant human glucocerebrosidase.
Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease.
Generation of polyclonal antibodies against recombinant human glucocerebrosidase produced in Escherichia coli.
Genetic and clinical features of patients with Gaucher disease in Hungary.
Genetic diagnosis of Gaucher's disease.
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
Genotype-phenotype pitfalls in Gaucher disease.
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma.
Global gene expression profile progression in Gaucher disease mouse models.
Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning.
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Glucocerebrosidase and its relevance to Parkinson disease.
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Glucocerebrosidase and parkinsonism: lessons to learn.
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
Glucocerebrosidase deficiency and lysosomal storage of glucocerebroside induced in cultured macrophages.
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/?-catenin signaling.
Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of ?-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.
Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
Glucocerebrosidase for treatment of Gaucher's disease: first German long-term results.
Glucocerebrosidase gene mutations in black South Africans with Gaucher disease.
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
Glucocerebrosidase haploinsufficiency in A53T ?-synuclein mice impacts disease onset and course.
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage.
Glucocerebrosidase inhibitors for the treatment of Gaucher disease.
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Glucocerebrosidase is shaking up the synucleinopathies.
Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease.
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Glucocerebrosidase mutations in Gaucher disease.
Glucocerebrosidase mutations in subjects with parkinsonism.
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.
Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
Glucocerebrosidase treatment of type I Gaucher disease with severe pulmonary involvement.
Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent.
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Glucosylceramide modulates endolysosomal pH in Gaucher disease.
Glucosylceramide modulates membrane traffic along the endocytic pathway.
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.
Glucosylsphingosine promotes ?-synuclein pathology in mutant GBA-associated Parkinson's disease.
Glycolipids as immune modulatory tools.
Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase.
Glycosylation.
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.
Haemorheology in Gaucher disease.
HCG contamination of alglucerase: clinical implications in low-dose regimen.
Hematologic improvement in a patient with Gaucher disease on long-term enzyme replacement therapy: evidence for decreased splenic sequestration and improved red blood cell survival.
Hematological manifestations and complications of Gaucher disease.
Hematopoietic stem cell transplantation for Gaucher disease.
Hemorrhagic aspects of Gaucher disease.
Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.
Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates.
Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.
High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.
High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase.
High-resolution proton nuclear magnetic resonance studies of the glucocerebrosidase activator protein from Gaucher spleen.
High-risk screening for Gaucher disease in patients with neurological symptoms.
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy.
Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones.
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease.
Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.
Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients.
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes.
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.
Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose.
Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites.
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites.
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by ?-xylosidase and transxylosidase reactions.
Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells.
Human leukocyte antigens and Gaucher disease.
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
Hydrophobic Interactions Contribute to Conformational Stabilization of Endoglycoceramidase II by Mechanism-Based Probes.
Hypercoagulability, parkinsonism, and Gaucher disease.
Hyperferritinemia revealing Gaucher's disease.
Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels.
Hyposmia and cognitive impairment in Gaucher disease patients and carriers.
Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease.
Identification of a feedback loop involving beta-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.
Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.
Identification of factors regulating the expression of the human glucocerebrosidase gene.
Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.
Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.
Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry.
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.
Imaging of enzyme replacement therapy using PET.
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.
Imiglucerase and its use for the treatment of Gaucher's disease.
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy.
Imiglucerase in the treatment of Gaucher disease: a history and perspective.
Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study.
Imiglucerase treatment in Gaucher's disease.
Immune thrombocytopenia and Gaucher's disease.
Immunoelectron microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver Kupffer cells.
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports.
Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.
Immunological and isoelectric focusing study of beta-glucocerebrosidase from normal and Gaucher disease.
Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration.
Impact of Gba2 on neuronopathic Gaucher's disease and ?-synuclein accumulation in medaka (Oryzias latipes).
Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.
Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease.
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3.
Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.
Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-Year follow-up.
Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat.
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages.
Impaired migration capacity in monocytes derived from patients with Gaucher disease.
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
Imprint cytology of Gaucher's disease presenting as a splenic mass. A case report with molecular approaches.
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain.
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy.
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa.
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide.
Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.
Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.
Improvement of bone disease with increased dose of glucocerebrosidase in a Gaucher disease patient who had a bone lesion presenting during low-dose enzyme replacement therapy.
Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases.
In silico and functional studies of the regulation of the glucocerebrosidase gene.
In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.
In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology.
In vitro detergent activation of lysosomal acid beta-glucosidase in the spleen of normal and type 1 Gaucher patients is not accompanied by change in aggregation state.
In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase.
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
In vivo methotrexate selection of murine hemopoietic cells transduced with a retroviral vector for Gaucher disease.
Incorporation of glucocerebrosidase into Gaucher's disease monocytes in vitro.
Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging.
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
Individualised low-dose alglucerase therapy for type 1 Gaucher's disease.
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines.
Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-?.
Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.
Initiation treatment with imiglucerase every 3 weeks in type 1 Gaucher disease.
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Interruption of enzyme replacement therapy in Gaucher disease.
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients.
Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators.
Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease.
Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
Intravenous enzyme replacement therapy: better in home or hospital?
Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.
Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature.
Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase.
Isofagomine induced stabilization of glucocerebrosidase.
Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.
Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease.
ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.
Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients.
KIR genes and HLA class I ligands in Gaucher disease.
Knockdown of chimeric glucocerebrosidase by green fluorescent protein-directed small interfering RNA.
Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers.
Laboratory and genetic evaluation of Gaucher disease.
Lacidipine remodels protein folding and Ca 2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase.
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice.
Leukocyte glucocerebrosidase deficiency diagnostic in adult Gaucher's disease with negative bone marrow biopsy. Some properties of the enzyme in leukocytes and spleen.
Limitations of enzyme replacement therapy: Current and future.
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.
Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist.
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher disease.
Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.
Long-term expression and secretion of human glucocerebrosidase by primary murine and human myoblasts and differentiated myotubes.
Long-term expression of the human glucocerebrosidase gene in vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a.
Looping the Link between Gaucher and Parkinson's Disease.
Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.
Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment.
Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease.
Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen--diagnostic and therapeutic dilemmas.
Lysosomal Cholesterol Accumulation Sensitizes To Acetaminophen Hepatotoxicity by Impairing Mitophagy.
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.
Lysosomal storage diseases.
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.
Lysosome and Inflammatory Defects in GBA1-Mutant Astrocytes Are Normalized by LRRK2 Inhibition.
Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.
Macrophages exposed in vitro to conduritol B epoxide resemble Gaucher cells.
Mammalian glucocerebrosidase: implications for Gaucher's disease.
Management of bone disease in Gaucher disease type 1: clinical practice.
Management of Gaucher disease in a post-communist transitional health care system: Croatian experience.
Management of Gaucher disease: enzyme replacement therapy.
Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.
Management of women with Gaucher disease in the reproductive age.
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention.
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard.
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.
Medical conditions in Ashkenazi schizophrenic pedigrees.
Membrane-bound ?-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.
Mesenchymal gaucho homing on the range.
Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.
Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.
Miglustat: new drug. In type 1 Gaucher's disease : a slight benefit after imiglucerase therapy.
Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.
Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.
Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.
Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.
Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease.
Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease.
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Molecular basis of reduced glucosylceramidase activity in the most common gaucher disease mutant N370S.
Molecular biology of glucocerebrosidase and the treatment of Gaucher disease.
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs.
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.
Molecular diagnosis of Gaucher disease type II.
Molecular docking and ADME properties of bioactive molecules against human acid-beta-glucosidase enzyme, cause of Gaucher's disease.
Molecular mechanisms of ?-synuclein and GBA1 in Parkinson's disease.
Molecular regulations and therapeutic targets of Gaucher disease.
Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease.
Monoclonal antibodies against human beta-glucocerebrosidase.
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Multiple forms of acid phosphatase activity in Gaucher's disease.
Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.
Munchausen syndrome by proxy mimicking as Gaucher disease.
Murine MHC class II locus control region drives expression of human beta-glucocerebrosidase in antigen presenting cells of transgenic mice.
Murine models of acute neuronopathic Gaucher disease.
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation.
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.
Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.
Mutations causing Gaucher disease.
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Myopathy in Gaucher disease.
N-terminal amino-acid sequence of a sphingolipid activator protein missing in a new human Gaucher disease variant.
N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease.
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
Neonatal Gaucher disease presenting as persistent thrombocytopenia.
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Neuroinflammation and ?-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
Neuronal forms of Gaucher disease.
Neuronopathic forms of Gaucher's disease.
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.
Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form.
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply.
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.
Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
Oligosaccharide excretion in adult Gaucher disease.
Open-label, expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy.
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.
Ophthalmological findings in Gaucher disease.
Optimal therapy in Gaucher disease.
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening.
Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.
Oral health of a child being treated for subtype I Gaucher's disease.
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.
Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease.
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy.
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease.
Overexpression of human glucocerebrosidase containing different-sized leaders.
Parkinson disease in Gaucher disease.
Parkinson's disease in patients and obligate carriers of Gaucher disease.
Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.
Parkinsonism among Gaucher disease carriers.
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Partial splenectomy for Gaucher's disease.
Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease.
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.
Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K.
Pathological findings in Gaucher disease type 2 patients following enzyme therapy.
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
Perinatal-lethal Gaucher disease.
Pharmaceutical approval update.
Pharmacokinetics of Novel Plant Cell-Expressed Taliglucerase Alfa in Adult and Pediatric Patients with Gaucher Disease.
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Pharmacological treatment of pediatric Gaucher disease.
Phase I/II and extension study of velaglucerase alfa (Gene-ActivatedTM human glucocerebrosidase) replacement therapy in adults with type 1 Gaucher disease: 48-month experience.
Phenotype variations in Gaucher disease.
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes.
Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide.
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase).
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease.
Plant-based oral delivery of ?-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease.
Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase.
Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data.
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Pleural tuberculosis in a patient with untreated type 1 Gaucher disease.
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
Polymorphisms in the human glucocerebrosidase gene.
Possible therapeutic effects of myxobacterial metabolites on type I Gaucher disease.
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.
Potent aminocyclitol glucocerebrosidase inhibitors are subnanomolar pharmacological chaperones for treating gaucher disease.
Prenatal diagnosis of Gaucher disease using next-generation sequencing.
Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
Preparation of glucocerebroside beta-glucosidase for entrapment in liposomes and treatment of patients with adult Gaucher's disease.
Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
Producing recombinant therapeutic glycoproteins with enhanced sialylation using CHO-gmt4 glycosylation mutant cells.
Production and Purification of Recombinant Glucocerebrosidase in Transgenic Rice Cell Suspension Cultures.
Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.
Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.
Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy.
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings.
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.
Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.
Protective effect of recombinant human erythropoietin in type II Gaucher disease patient cells by scavenging endoplasmic reticulum stress.
Pseudo-Gaucher cells preceding the appearance of immunoblastic lymphoma.
Pseudo-Gaucher's cells in association with common acute lymphoblastic leukemia.
Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome.
Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy.
Pulmonary involvement of Gaucher's disease in children: a common presentation in Saudi Arabia.
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
Pulmonary pathology in Gaucher's disease.
Purification and characterization of a cytosolic broad specificity beta-glucosidase from human liver.
Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.
Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells.
Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol-Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease.
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.
Rebound hepatosplenomegaly in type 1 Gaucher disease.
Recent advances in the diagnosis and management of Gaucher disease.
Recent Advances in Treatment Approaches to Gaucher Disease.
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.
Reclamation of proteins from the cellular scrap heap.
Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease.
Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model.
Recombinant human acid beta-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblasts.
Recombinant proteins for genetic disease.
Reconstitution of TCP80/NF90 translation inhibition activity in insect cells.
RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease.
Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.
Reexamination of the cysteine residues in glucocerebrosidase.
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding.
Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report.
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.
Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.
Replacement therapy with imiglucerase for type 1 Gaucher's disease.
Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease.
Resurrecting the protein fold for disease intervention.
Rethinking fatigue in Gaucher disease.
Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
Retroviral mediated transfer of the cDNA for human glucocerebrosidase into hematopoietic stem cells of patients with Gaucher disease. A phase I study.
Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation.
Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow.
Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulating cells of patients with Gaucher's disease.
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.
Review of miglustat for clinical management in Gaucher disease type 1.
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.
Revised recommendations for the management of Gaucher disease in children.
RIPK3 as a potential therapeutic target for Gaucher's disease.
Role of ?-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease.
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
Safety and efficacy of velaglucerase alfa replacement therapy for patients with type 1 Gaucher disease.
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase.
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
Sequence of two alleles responsible for Gaucher disease.
Sequence, structural, functional, and phylogenetic analyses of three glycosidase families.
Serum lipid alterations in GBA-associated Parkinson's disease.
Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease.
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
Severe systemic immune response syndrome, low plasma paraoxonase activity, and a new albumin species in a traumatized patient with Gaucher's disease.
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.
Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease.
Significant and continuous improvement in bone mineral density among type 1 Gaucher disease patients treated with velaglucerase alfa: 69-month experience, including dose reduction.
Simultaneous Detection of Gaucher's Disease and Renal Involvement of non-Hodgkin's Lymphoma: the First Asian Case Report and a Review of Literature.
Skeletal aspects of Gaucher disease: a review.
Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.
Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease.
Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease.
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study.
Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.
Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial.
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.
Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Structural features of membrane-bound glucocerebrosidase and ?-synuclein probed by neutron reflectometry and fluorescence spectroscopy.
Structure and organization of the human thrombospondin 3 gene (THBS3).
Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease.
Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease.
Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes.
Subarachnoid anesthesia in a patient with type I Gaucher disease.
Substrate reduction therapy of glycosphingolipid storage disorders.
Substrate reduction therapy with miglustat for type 1 Gaucher disease: A retrospective analysis from a single institution.
Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk.
Successful rapid desensitization to imiglucerase in an adult patient with Gaucher disease and documented IgE-mediated hypersensitivity.
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.
Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase.
Sulfogalactocerebroside and bis-(monoacylglyceryl)-phosphate as activators of spleen glucocerebrosidase.
Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.
Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris.
Synthesis and use of novel fluorescent glycosphingolipids for estimating beta-glucosidase activity in vitro in the absence of detergents and subtyping Gaucher disease variants following administration into intact cells.
Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells.
Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.
Taliglucerase alfa approved for Gaucher disease.
Taliglucerase alfa for the treatment of Gaucher's disease.
Taliglucerase alfa in Gaucher disease: Description of a Brazilian experience.
Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.
TFEB regulates lysosomal proteostasis.
Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.
The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease.
The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.
The association between lysosomal protein glucocerebrosidase and Parkinson's disease.
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
The biology of the Gaucher cell: the cradle of human chitinases.
The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review.
The Clinical Efficacy of Imiglucerase versus Eliglustat in Patients with Gaucher's Disease Type 1: A Systematic Review.
The clinical management of type 2 Gaucher disease.
The combination of plant translational enhancers and terminator increase the expression of human glucocerebrosidase in Nicotiana benthamiana plants.
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.
The E326K mutation and Gaucher disease: mutation or polymorphism?
The effect of N-octyl-beta-valienamine on beta-glucosidase activity in tissues of normal mice.
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.
The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease.
The enigma of the E326K mutation in acid ?-glucocerebrosidase.
The glucocerebrosidase D409H mutation in Gaucher disease.
The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
The human glucocerebrosidase gene has two functional ATG initiator codons.
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation.
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms.
The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase.
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
The link between the GBA gene and parkinsonism.
The long-term international safety experience of imiglucerase therapy for Gaucher disease.
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
The myo-1,2-Diaminocyclitol Scaffold Defines Potent Glucocerebrosidase Activators and Promising Pharmacological Chaperones for Gaucher Disease.
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).
The occurrence of beta-glucocerebrosidase activity in the glucocerebroside-rich deposits of Gaucher's disease.
The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen.
The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases.
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.
The presence of an autologous marrow stromal cell layer increases glucocerebrosidase gene transduction of long-term culture initiating cells (LTCICs) from the bone marrow of a patient with Gaucher disease.
The Production of Human ?-Glucocerebrosidase in Nicotiana benthamiana Root Culture.
The relationship between glucocerebrosidase mutations and Parkinson disease.
The risk of Parkinson's disease in type 1 Gaucher disease.
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.
The role of neurogenetics in Gaucher disease.
The role of saposin C in Gaucher disease.
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
The Spectrum of Neurological Manifestations Associated with Gaucher Disease.
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
The studies on substrate, product and inhibitor binding to a wild-type and neuronopathic form of human acid-beta-glucosidase.
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.
The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China.
Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease.
Therapeutic goals in Gaucher disease.
Therapeutic goals in the treatment of Gaucher disease.
Therapeutic Potential of ?S Evolvability for Neuropathic Gaucher Disease.
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease.
Therapeutic strategies for Gaucher disease: miglustat (NB-DNJ) as a pharmacological chaperone for glucocerebrosidase and the different thermostability of velaglucerase alfa and imiglucerase.
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.
Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D).
Thromboelastography Before Epidural Placement in a Thrombocytopenic Parturient With Gaucher Disease Treated With Imiglucerase: A Case Report.
Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.
Tool Compounds Robustly Increase Turnover of an Artificial Substrate by Glucocerebrosidase in Human Brain Lysates.
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Transduction of mobilized peripheral blood CD34+ cells with the glucocerebrosidase cDNA.
Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients: successful engraftment and long-term expression of the transgene.
Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.
Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland.
Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway.
Translational inefficiency of acid beta-glucosidase mRNA in transgenic mammalian cells.
Treatment of Gaucher's disease with liposome-entrapped glucocerebroside: beta-glucosidase.
Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.
Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.
Twin pairs showing discordance of phenotype in adult Gaucher's disease.
Two new Gaucher disease mutations.
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
Two siblings with Gaucher type 3c: different clinical presentations.
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients.
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
Type 2 Gaucher disease: 15 new cases and review of the literature.
Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity.
Type 2 Gaucher disease: the collodion baby phenotype revisited.
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy.
Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
Ultrasensitive in situ visualization of active glucocerebrosidase molecules.
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry.
Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease.
Unexpected macrophage-independent dyserythropoiesis in Gaucher disease.
Unfolded protein response in Gaucher disease: from human to Drosophila.
Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.
Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.
Use of fluorescent substrates for characterization of Gaucher disease mutations.
Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil.
Using transgenic plants and modified plant viruses for the development of treatments for human diseases.
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy.
Variants associated with Gaucher disease in multiple system atrophy.
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.
Velaglucerase alfa as a therapeutic option for Gaucher disease.
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
Velaglucerase alfa for the management of type 1 Gaucher disease.
Velaglucerase alfa in the treatment of Gaucher disease type 1.
Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.
Velaglucerase alfa: a new option for Gaucher disease treatment.
Vestibular and Saccadic Abnormalities in Gaucher's Disease.
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher disease.
Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes.
Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis.
VP22 enhances the expression of glucocerebrosidase in human Gaucher II fibroblast cells mediated by lentiviral vectors.
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease.
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
[A retrospective study on enzyme replacement therapy in patients with Gaucher disease]
[Adult Gaucher disease]
[Adult Gaucher's disease with pulmonary involvement]
[Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease]
[Anesthetic management in a pregnant woman with type 1 Gaucher disease]
[Anesthetic management involving difficult intubation in a child with Gaucher disease]
[Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease].
[Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity]
[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].
[Clinical and nutritional aspects of Gaucher disease: prospective study of 13 children at a single center]
[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype]
[Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Cérédase)]
[Current development and usefulness of biomarkers for Gaucher disease follow up]
[Current treatment for Gaucher's disease and new prospects].
[Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy centers in the year 2000]
[Diagnosis and therapy of Gaucher disease]
[Diagnosis and treatment of Gaucher disease in Croatia]
[Diagnostic difficulties in Gaucher disease: report of two cases]
[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].
[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease]
[Enzyme replacement therapy for Gaucher disease introduced in late adulthood].
[Enzyme replacement therapy for Gaucher paediatric disease: the only Tunisian experience]
[Enzyme replacement therapy in type 1 Gaucher's disease]
[Enzyme replacement therapy of patients with lysosomal storage disease]
[Enzyme replacement therapy: a new treatment concept in Gaucher disease]
[Enzyme substitution in Gauscher disease]
[Enzyme therapy in children with severe forms of Gaucher's disease]
[Epidemiologic, clinical, biological and therapeutic aspects of Gaucher disease]
[Experience in the management of pediatric patients with Gaucher disease].
[French results of enzyme replacement therapy in Gaucher's disease]
[From gene to disease; Gaucher disease]
[Gaucher disease type 1--therapeutic results of enzyme substitution]
[Gaucher disease--guidelines for diagnosis and management of adult patients].
[Gaucher disease: A review].
[Gaucher disease: clinical, genetic and therapeutic aspects]
[Gaucher disease: diagnosis and treatment]
[Gaucher disease: importance of early diagnosis and therapy]
[Gaucher disease]
[Gaucher Disease].
[Gaucher disease].
[Gaucher's disease - an overview about a sphingolipidosis].
[Gaucher's disease and enzyme replacement therapy]
[Gaucher's Disease and Imiglucerase in 2009/2010: What Leads to a Suddenly Enforced Prioritisation?]
[Gaucher's disease suspected by abdominal echography findings]
[Gaucher's disease uncovered late]
[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]
[Gaucher's disease. Report of 4 cases]
[Gaucher's disease: current aspects]
[GBA mutations and Parkinson's disease].
[Gene analysis of Gaucher disease]
[Gene polymorphisms leading to calcified and stenotic aortic valves]
[Gene therapy for Gaucher disease]
[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]
[Genetics of Gaucher's disease. Genotype-phenotype correlation].
[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)]
[Hematological aspects of Gaucher disease]
[High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease].
[In vitro proven glucocerebrosidase defect: a non-neuronal type of Gaucher's disease in adults]
[Indications for splenectomy in Gaucher's disease. Case report]
[Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]
[Molecular genetic approaches to neurologic diseases]
[Molecular studies of Gaucher disease]
[Morbus gaucher--a report of two cases]
[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous]
[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]
[Neurophysiolgical analysis in an 18-month-old girl with Gaucher's disease type 2]
[Osteoarticular manifestations of Gaucher's Disease and imiglucerase efficacy on bone mineral density in adults. Review of literature].
[Perinatal lethal Gaucher disease. Case report].
[Persistence of pulmonary lesions in a 6-year-old boy with type I Gaucher's disease treated by alglucerase since the age of 20 months]
[Pregnancy in Gaucher disease.]
[Prenatal diagnosis of Gaucher disease]
[Prenatal diagnosis of Gaucher's disease (author's transl)]
[Properties of the molecular forms of beta-glucosidase and beta-glucocerebrosidase from normal human and Gaucher disease spleen (author's transl)]
[Safety of use of velaglucerase in 2 patients with type 1 Gaucher's disease].
[The active site of human glucocerebrosidase: structural predictions and experimental validations]
[Therapeutic targets in Gaucher's disease].
[Type 3 Gaucher disease, also an adult disease?]
[Type I Gaucher's disease. Report of 2 affected families]
[Update on Gaucher's disease]
[Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]
[Voluminous nodular splenomegaly in Gaucher disease: A case report.]
{alpha}-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases.
Genetic Diseases, Inborn
An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation.
Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease.
Creating genetics-based infusion centers: a case study of two models.
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Gaucher disease - bone involvement.
Gaucher's disease: report of 11 cases with review of literature.
Subarachnoid anesthesia in a patient with type I Gaucher disease.
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.
Toward gene therapy for Gaucher disease.
[Anesthetic management in a pregnant woman with type 1 Gaucher disease]
[Bone manifestations of Gaucher's disease in Mexican patients].
[Epidemiologic, clinical, biological and therapeutic aspects of Gaucher disease]
[Gaucher disease: A review].
[Gaucher's disease and enzyme replacement therapy]
geranoyl-coa carboxylase deficiency
Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
Glioblastoma
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
glucosylceramidase deficiency
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease.
Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside.
Assessment of Bone Health in Patients with Type 1 Gaucher Disease Using Impact Microindentation.
Bone marrow microenvironment in an in vitro model of Gaucher Disease: consequences of Glucocerebrosidase deficiency.
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.
Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia.
Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant.
Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy.
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Coxarthritis as the presenting symptom of Gaucher disease type 1.
Cytokine mRNA in Gaucher disease.
Development of safe and efficient retroviral vectors for Gaucher disease.
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss.
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models.
Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease.
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Gaucher disease.
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
Gaucher's disease: report of 11 cases with review of literature.
GBA1-associated parkinsonism: new insights and therapeutic opportunities.
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
Glucocerebrosidase deficiency and lysosomal storage of glucocerebroside induced in cultured macrophages.
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/?-catenin signaling.
Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Glucocerebrosidase haploinsufficiency in A53T ?-synuclein mice impacts disease onset and course.
Glucocerebrosidase mutations in subjects with parkinsonism.
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports.
Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.
Leukocyte glucocerebrosidase deficiency diagnostic in adult Gaucher's disease with negative bone marrow biopsy. Some properties of the enzyme in leukocytes and spleen.
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
Mesenchymal gaucho homing on the range.
Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
N-terminal amino-acid sequence of a sphingolipid activator protein missing in a new human Gaucher disease variant.
Neuroinflammation and ?-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Neuronopathic forms of Gaucher's disease.
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Oligosaccharide excretion in adult Gaucher disease.
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.
Perinatal-lethal Gaucher disease.
Polymorphisms in the human glucocerebrosidase gene.
Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III.
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings.
Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
Role of ?-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.
Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease.
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Twin pairs showing discordance of phenotype in adult Gaucher's disease.
Type 2 Gaucher disease: 15 new cases and review of the literature.
Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.
Vestibular and Saccadic Abnormalities in Gaucher's Disease.
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype]
[Current development and usefulness of biomarkers for Gaucher disease follow up]
[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].
[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)]
[Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]
[Morbus gaucher--a report of two cases]
[Type 3 Gaucher disease, also an adult disease?]
Glycogen Storage Disease
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.
Glycogen Storage Disease Type II
Lysosomal storage diseases.
Hand, Foot and Mouth Disease
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Hematologic Neoplasms
Mesenchymal gaucho homing on the range.
Hepatitis B
Carrot cells: a pioneering platform for biopharmaceuticals production.
Hepatomegaly
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
[Type I Gaucher's disease: clinical, evolutive and therapeutic features in 8 cases]
Hepatopulmonary Syndrome
Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome.
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.
Herpes Simplex
Second gene expression in bicistronic constructs using short synthetic intercistrons and viral IRES sequences.
Hodgkin Disease
Acquired Gaucher's cells in Hodgkin's disease.
Hydrocephalus
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Hydrops Fetalis
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
Hypergammaglobulinemia
Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy.
Hypersensitivity
An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease.
Effective desensitization to imiglucerase in a patient with type I Gaucher disease.
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Recombinant proteins for genetic disease.
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.
Hypersensitivity, Immediate
Successful rapid desensitization to imiglucerase in an adult patient with Gaucher disease and documented IgE-mediated hypersensitivity.
Hypertension
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis.
Hypertension, Pulmonary
Hypercoagulability, parkinsonism, and Gaucher disease.
Management of women with Gaucher disease in the reproductive age.
Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome.
Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy.
Hypoalphalipoproteinemias
Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia.
Ichthyosis
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
Type 2 Gaucher disease: the collodion baby phenotype revisited.
Infections
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Development of safe and efficient retroviral vectors for Gaucher disease.
Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease.
Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis.
Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector.
High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells.
Methotrexate selectable retroviral vectors for Gaucher disease.
Rational scale-up of a baculovirus-insect cell batch process based on medium nutritional depth.
Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.
[Advances in research of SCARB2 functions and related disorders].
Influenza, Human
Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis.
Target product selection - where can Molecular Pharming make the difference?
Ischemic Stroke
Ambroxol Upregulates Glucocerebrosidase Expression to Promote Neural Stem Cells Differentiation Into Neurons Through Wnt/?-Catenin Pathway After Ischemic Stroke.
Klatskin Tumor
[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].
Leukemia
A study of acid beta-glucosidase in a patient with Gaucher disease and leukemia.
Development of safe and efficient retroviral vectors for Gaucher disease.
Evaluation of expression of transferred genes in differentiating myeloid cells: expression of human glucocerebrosidase in murine macrophages.
Expression of human glucocerebrosidase in long-term reconstituted mice following retroviral-mediated gene transfer into hematopoietic stem cells.
Expression of human glucocerebrosidase in murine long-term bone marrow cultures after retroviral vector-mediated transfer.
High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells.
Lack of expression from a retroviral vector after transduction of murine hematopoietic stem cells is associated with methylation in vivo.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.
Leukodystrophy, Globoid Cell
Sequence, structural, functional, and phylogenetic analyses of three glycosidase families.
Leukodystrophy, Metachromatic
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Lewy Body Disease
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
Gaucher disease and the synucleinopathies.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Glucocerebrosidase mutations in diffuse Lewy body disease.
Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Wild-type GBA1 increases the ?-synuclein tetramer-monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice.
Lipid Metabolism Disorders
Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability.
Lipidoses
[Update on Gaucher's disease]
Liver Diseases
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.
Lung Diseases
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
Lymphoma, Non-Hodgkin
Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease.
Lysosomal Storage Diseases
A comprehensive assessment of renal function in patients with Gaucher disease.
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis.
Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation.
Characterization of Gene-activated Human Acid-{beta}-Glucosidase: Crystal Structure, Glycan Composition and Internalization into Macrophages.
Characterization of neuronopathic Gaucher disease among ethnic Poles.
Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
Cholelithiasis in a patient with type 2 Gaucher disease.
Clinical and genetic characteristics of Korean patients with Gaucher disease.
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease.
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Gaucher disease and multiple myeloma.
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
Gaucher disease: haematological presentations and complications.
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.
Gaucher's disease and pregnancy.
Gaucher's disease in Lithuania: its diagnosis and treatment.
Gaucher's disease in pregnancy.
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma.
Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy.
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports.
Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature.
Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients.
Medical conditions in Ashkenazi schizophrenic pedigrees.
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Molecular regulations and therapeutic targets of Gaucher disease.
Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Oligosaccharide excretion in adult Gaucher disease.
Perinatal-lethal Gaucher disease.
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.
Rethinking fatigue in Gaucher disease.
RIPK3 as a potential therapeutic target for Gaucher's disease.
Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher's disease.
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis.
Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.
Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity.
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
Vestibular and Saccadic Abnormalities in Gaucher's Disease.
Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.
[Gene analysis of Gaucher disease]
[Gene therapy for Gaucher disease]
[Hematological aspects of Gaucher disease]
Measles
Carrot cells: a pioneering platform for biopharmaceuticals production.
Melanoma
Parkinson's disease I: glucocerebrosidase mutations, family history of melanoma and questionable effects of rasagiline.
Menorrhagia
Pharmaceutical approval update.
The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).
Metabolic Diseases
Gaucher disease and bone manifestations.
Neuronal forms of Gaucher disease.
[Gaucher disease]
[Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]
Mouth Diseases
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Movement Disorders
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Disease Modification in Parkinson's Disease: Current Approaches, Challenges, and Future Considerations.
Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients.
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.
Mucolipidoses
Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation.
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
Mucopolysaccharidoses
Limitations of enzyme replacement therapy: Current and future.
Mucopolysaccharidosis I
Lysosomal storage diseases.
Mucopolysaccharidosis IV
Lysosomal storage diseases.
Multiple Sclerosis
Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation.
Multiple System Atrophy
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.
Muscular Diseases
Nanoparticles restore lysosomal acidification defects: Implications for Parkinson and other lysosomal-related diseases.
Neoplasms
Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy.
Enzyme replacement therapy for Gaucher's disease in patient treated for non-small cell lung cancer.
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
Status of the Parkinson's disease gene family expression in non-small-cell lung cancer.
Trends in Glucocerebrosides Research: A Systematic Review.
Neuroblastoma
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism.
Neurodegenerative Diseases
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular ?-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
Genetics of sporadic disease: insights from high-throughput sequencing -Parkinson disease-.
Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
Glucocerebrosidase dysfunction in neurodegenerative disease.
Glucocerebrosidase is shaking up the synucleinopathies.
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
The relationship between glucocerebrosidase mutations and Parkinson disease.
[Clinical characteristics of the neurological forms of Gaucher's disease].
Neuroinflammatory Diseases
Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
Neuroinflammation and ?-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Neurologic Manifestations
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
Gaucher's disease: a paradigm for interventional genetics.
Gaucher's disease: clinical features and natural history.
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.
Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.
RIPK3 as a potential therapeutic target for Gaucher's disease.
[Gaucher disease: clinical, genetic and therapeutic aspects]
[Prenatal diagnosis of Gaucher disease]
Niemann-Pick Disease, Type C
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.
Niemann-Pick Diseases
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.
Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.
Osteoporosis
[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].
Pancytopenia
Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients.
[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].
Paralysis
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.
Paraplegia
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Paraproteinemias
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy.
Parkinson Disease
?-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers.
A feedforward loop links Gaucher and Parkinson's diseases?
A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.
A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson's disease.
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
A New Glucocerebrosidase Chaperone Reduces ?-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
A novel glucosylceramide synthase inhibitor attenuates alpha synuclein pathology and lysosomal dysfunction in preclinical models of synucleinopathy.
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients.
A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.
Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.
Advances in GBA-associated Parkinson's disease - Pathology, presentation and therapies.
Aggregation of ?-synuclein in brain samples from subjects with glucocerebrosidase mutations.
Alpha galactosidase A activity in Parkinson's disease.
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.
Altered level of plasma exosomes in patients with Gaucher disease.
Ambroxol effects in glucocerebrosidase and ?-synuclein transgenic mice.
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells.
Analysis of the glucocerebrosidase gene in Parkinson's disease.
Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.
Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.
Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese.
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Association of GBA Genotype With Motor and Functional Decline in Patients With Newly Diagnosed Parkinson Disease.
Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.
Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.
Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.
Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China.
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease.
Bioinformatics analysis and identification of genes and molecular pathways involved in Parkinson's disease in patients with mutations in the glucocerebrosidase gene.
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease.
Cerebrospinal Fluid Profiles in Parkinson's Disease: No Accumulation of Glucosylceramide, but Significant Downregulation of Active Complement C5 Fragment.
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
Clinical and Dopamine Transporter Imaging Characteristics of Leucine- Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study.
Clinical implications for dopaminergic and functional neuroimage research in cognitive symptoms of Parkinson's disease.
Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals.
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.
Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.
Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers.
Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers.
Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.
Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan.
Cross-talks among GBA mutations, glucocerebrosidase, and ?-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease.
D409H GBA1 mutation accelerates the progression of pathology in A53T ?-synuclein transgenic mouse model.
Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study.
Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases.
Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene.
Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.
Did ?-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease.
Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains.
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.
Dual-Task Performance in GBA Parkinson's Disease.
Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons.
Effects of glucocerebrosidase gene polymorphisms and mutations on the risk of Parkinson's disease dementia: A meta-analysis.
Emerging insights into the mechanistic link between ?-synuclein and glucocerebrosidase in Parkinson's disease.
Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease.
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular ?-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation-Positive Cohort.
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Exploring Sphingolipid Implications in Neurodegeneration.
Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Fibroblasts from idiopathic Parkinson's disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2.
First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L.
Frequency of
Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.
Functionalized Cyclophellitols Are Selective Glucocerebrosidase Inhibitors and Induce a Bona Fide Neuropathic Gaucher Model in Zebrafish.
Gait asymmetry in glucocerebrosidase mutation carriers with Parkinson's disease.
Gaucher disease and the synucleinopathies.
Gaucher-Associated Parkinsonism.
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models.
GBA mutations in Parkinson disease: earlier death but similar neuropathological features.
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease.
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
GBA RNAi but not catalytic inhibition of glucocerebrosidase with Conduritol-?-epoxide increases levels of total ?-synuclein in SH-SY5Y cells.
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.
GBA-associated PD presents with nonmotor characteristics.
GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure.
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.
Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Genetics of Parkinson disease and essential tremor.
Genetics of sporadic disease: insights from high-throughput sequencing -Parkinson disease-.
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning.
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Glucocerebrosidase Activity is Reduced in Cryopreserved Parkinson's Disease Patient Monocytes and Inversely Correlates with Motor Severity.
Glucocerebrosidase and its relevance to Parkinson disease.
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Glucocerebrosidase and Parkinson disease: Recent advances.
Glucocerebrosidase and parkinsonism: lessons to learn.
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
Glucocerebrosidase deficits in sporadic Parkinson disease.
Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.
Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
Glucocerebrosidase Gene Mutation and Preclinical Markers of Parkinson Disease.
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.
Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia.
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.
Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population.
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
Glucocerebrosidase Gene Therapy Induces Alpha-Synuclein Clearance and Neuroprotection of Midbrain Dopaminergic Neurons in Mice and Macaques.
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment.
Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease.
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Glucocerebrosidase is shaking up the synucleinopathies.
Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China.
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
Glucocerebrosidase Mutations and Motor Reserve in Parkinson's Disease.
Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Glucocerebrosidase mutations and the pathogenesis of Parkinson disease.
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease.
Glucocerebrosidase mutations in a French-canadian Parkinson's disease cohort.
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Glucocerebrosidase mutations in diffuse Lewy body disease.
Glucocerebrosidase Mutations in Parkinson Disease.
Glucocerebrosidase mutations in primary parkinsonism.
Glucocerebrosidase mutations in subjects with parkinsonism.
Glucocerebrosidase mutations in Thai patients with Parkinson's disease.
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.
Glucocerebrosidase mutations: tipping point toward Parkinson disease and dementia?
Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients.
Glucocerebrosidase, Parkinson disease, and the "senses and intellect".
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.
Glucosylsphingosine promotes ?-synuclein pathology in mutant GBA-associated Parkinson's disease.
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
High Performance Liquid Chromatography-Mass Spectrometry (LC-MS) Based Quantitative Lipidomics Study of Ganglioside-NANA-3 Plasma to Establish Its Association with Parkinson's Disease Patients.
Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Impact of Gba2 on neuronopathic Gaucher's disease and ?-synuclein accumulation in medaka (Oryzias latipes).
Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging.
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene.
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data.
L444P Gba1 mutation increases formation and spread of ?-synuclein deposits in mice injected with mouse ?-synuclein pre-formed fibrils.
Lack of association between LRRK2 G2385R and cognitive dysfunction in Korean patients with Parkinson's disease.
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Leukocyte glucocerebrosidase and ?-hexosaminidase activity in sporadic and genetic Parkinson disease.
Lewy Body-like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and ?-Synuclein Mutations.
Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age.
Longitudinal clinical, cognitive, and neuroanatomical changes over 5 years in GBA-positive Parkinson's disease patients.
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients.
LRRK2 Kinase Inhibition Rescues Deficits in Lysosome Function Due to Heterozygous GBA1 Expression in Human iPSC-Derived Neurons.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.
Membrane Interactions of ?-Synuclein Probed by Neutrons and Photons.
Membrane-bound ?-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.
Modulation of ?-Glucocerebrosidase Increases ?-Synuclein secretion and Exosome release in Mouse Models of Parkinson's Disease.
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.
Mutant GBA1 Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models.
Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies.
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.
Niemann-Pick's and Gaucher's diseases.
No evidence for substrate accumulation in Parkinson brains with GBA mutations.
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.
Oligomeric ?-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson's disease.
Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.
Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians.
Parkinson's disease I: glucocerebrosidase mutations, family history of melanoma and questionable effects of rasagiline.
Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation.
Parkinson's disease in patients and obligate carriers of Gaucher disease.
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Parkinsonism among Gaucher disease carriers.
Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Path mediation analysis reveals GBA impacts Lewy body disease status by increasing ?-synuclein levels.
Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease.
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson's disease and associated with cognitive impairment: a pilot study.
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Presenting symptoms of GBA-related Parkinson's disease.
Prevalence of pre-diagnostic symptoms did not differ between LRRK2-related, GBA-related and idiopathic patients with Parkinson's disease.
Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
Progressive decline of glucocerebrosidase in aging and Parkinson's disease.
Protein unbound pharmacokinetics of ambroxol in the blood and brains of rats and the interaction of ambroxol with Polygala tenuifolia by multiple microdialysis.
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.
Reduced glucocerebrosidase is associated with increased ?-synuclein in sporadic Parkinson's disease.
Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
Saposin C Protects Glucocerebrosidase against ?-Synuclein Inhibition.
SCARB2 variants and glucocerebrosidase activity in Parkinson's disease.
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease.
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.
Structural features of membrane-bound glucocerebrosidase and ?-synuclein probed by neutron reflectometry and fluorescence spectroscopy.
Survival and dementia in GBA-associated Parkinson Disease: The mutation matters.
Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease.
Targeting glucocerebrosidase: Reduced enzymatic activity and Parkinson's disease.
The association between lysosomal protein glucocerebrosidase and Parkinson's disease.
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.
The interplay between Glucocerebrosidase, ?-synuclein and lipids in human models of Parkinson's disease.
The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
The link between the GBA gene and parkinsonism.
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
The neuropathology of genetic Parkinson's disease.
The relationship between glucocerebrosidase mutations and Parkinson disease.
The Role of Exosomes in Lysosomal Storage Disorders.
The role of glucocerebrosidase in Parkinson disease pathogenesis.
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Tool Compounds Robustly Increase Turnover of an Artificial Substrate by Glucocerebrosidase in Human Brain Lysates.
Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.
Transcranial sonography in carriers of Gaucher disease.
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
Variants associated with Gaucher disease in multiple system atrophy.
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.
What would Dr. James parkinson think today? Mutations in beta-glucocerebrosidase and risk of Parkinson's disease.
White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations.
Wild-type GBA1 increases the ?-synuclein tetramer-monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice.
[American Academy of Neurology, Washington, 18-25 April 2015].
[Characteristics of Parkinson's disease course in the heterozygous carriage of mutations in the glucocerebrosidase A gene].
[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]
[The clinical features of Parkinson's disease in patients with mutations and polymorphic variants of GBA gene].
Parkinsonian Disorders
A New Glucocerebrosidase Chaperone Reduces ?-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Autosomal recessive mutations in the development of Parkinson's disease.
Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism.
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.
Gaucher disease and the synucleinopathies.
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Gaucher disease: complexity in a "simple" disorder.
Gaucher disease: Progress and ongoing challenges.
Glucocerebrosidase and its relevance to Parkinson disease.
Glucocerebrosidase and parkinsonism: lessons to learn.
Glucocerebrosidase as a therapeutic target for Parkinson's disease.
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Glucocerebrosidase mutations in subjects with parkinsonism.
Leukocyte glucocerebrosidase and ?-hexosaminidase activity in sporadic and genetic Parkinson disease.
Membrane-bound ?-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Parkinsonism among Gaucher disease carriers.
Parkinsonism associated with glucocerebrosidase mutation.
Parkinsonism, dementia and glucocerebrosidase mutations.
Pro-cathepsin D, Prosaposin, and Progranulin: Lysosomal Networks in Parkinsonism.
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
The Role of Exosomes in Lysosomal Storage Disorders.
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Peripheral Nerve Injuries
Inhibition of ?-Glucocerebrosidase Activity Preserves Motor Unit Integrity in a Mouse Model of Amyotrophic Lateral Sclerosis.
Peripheral Nervous System Diseases
Miglustat: new drug. In type 1 Gaucher's disease : a slight benefit after imiglucerase therapy.
Pulmonary Disease, Chronic Obstructive
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
REM Sleep Behavior Disorder
Cognition among individuals along a spectrum of increased risk for Parkinson's disease.
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.
Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.
Renal Insufficiency
Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.
Rheumatic Diseases
[Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]
Sandhoff Disease
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Seizures
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
Spastic Paraplegia, Hereditary
Glucosylceramidases and malignancies in mammals.
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Sphingolipidoses
A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
Gaucher disease: complexity in a "simple" disorder.
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
Gaucher's Disease and Cancer: A Sphingolipid Perspective.
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
Replacement therapy with imiglucerase for type 1 Gaucher's disease.
Sphingolipidoses in Turkey.
The effect of N-octyl-beta-valienamine on beta-glucosidase activity in tissues of normal mice.
The glucocerebrosidase D409H mutation in Gaucher disease.
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases.
[Gaucher's disease - an overview about a sphingolipidosis].
Spinocerebellar Ataxias
Leukocyte glucocerebrosidase and ?-hexosaminidase activity in sporadic and genetic Parkinson disease.
Supranuclear Palsy, Progressive
Glucocerebrosidase mutations p.L444P and p.N370S are not associated with multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in Polish patients.
Synucleinopathies
A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy.
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related Synucleopathies.
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
CNS expression of glucocerebrosidase corrects {alpha}-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.
Development of targeted therapies for Parkinson disease and related synucleinopathies.
Frequency of
Gaucher disease and the synucleinopathies.
Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies.
GBA variation and susceptibility to multiple system atrophy.
Glucocerebrosidase and its relevance to Parkinson disease.
Glucocerebrosidase depletion enhances cell-to-cell transmission of ?-synuclein.
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Glucocerebrosidase is shaking up the synucleinopathies.
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes.
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
Looping the Link between Gaucher and Parkinson's Disease.
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
Validation and assessment of preanalytical factors of a fluorometric in vitro assay for glucocerebrosidase activity in human cerebrospinal fluid.
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
Tay-Sachs Disease
Medical conditions in Ashkenazi schizophrenic pedigrees.
Tetralogy of Fallot
[Gene polymorphisms leading to calcified and stenotic aortic valves]
Thalassemia
Gene transfer-mediated generation of drug-resistant hemopoiesis.
Thrombocytopenia
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Discrepancies between genotype and phenotype in hematology: an important frontier.
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Gaucher's disease and pregnancy.
Gaucher's disease: a paradigm for interventional genetics.
Imiglucerase and its use for the treatment of Gaucher's disease.
Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study.
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
Ophthalmological findings in Gaucher disease.
Pregnancy after avascular necrosis of the femur complicating Gaucher's disease.
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Thromboelastography Before Epidural Placement in a Thrombocytopenic Parturient With Gaucher Disease Treated With Imiglucerase: A Case Report.
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
[A retrospective study on enzyme replacement therapy in patients with Gaucher disease]
[Gaucher disease: clinical, genetic and therapeutic aspects]
Thrombosis
[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].
Tremor
Miglustat: new drug. In type 1 Gaucher's disease : a slight benefit after imiglucerase therapy.
Tuberculosis
Carrot cells: a pioneering platform for biopharmaceuticals production.
Urinary Incontinence
Gene expression in urinary incontinence and pelvic organ prolapse: a review of literature.
Uveitis
[Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]
Uveitis, Intermediate
[Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]
Vaccinia
Expression of mutated glucocerebrosidase alleles in human cells.
Overexpression of human glucocerebrosidase containing different-sized leaders.
Virus Diseases
Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis.
Whooping Cough
Carrot cells: a pioneering platform for biopharmaceuticals production.
Williams Syndrome
[Gene polymorphisms leading to calcified and stenotic aortic valves]