Disease on EC 3.2.1.45 - glucosylceramidase
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Abortion, Spontaneous
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey.
Abortion, Spontaneous
The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).
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.
Alzheimer Disease
Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?
Alzheimer Disease
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
Alzheimer Disease
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.
Anaphylaxis
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.
Anemia
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Anemia
Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage.
Anemia
Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study.
Anemia
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.
Anemia
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
Anemia
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Anemia
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
Anemia
[A retrospective study on enzyme replacement therapy in patients with Gaucher disease]
Anosmia
Cognition among individuals along a spectrum of increased risk for Parkinson's disease.
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.
Arthrogryposis
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.
Ataxia
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
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Bone Diseases
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.
Bone Diseases
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.
Bone Diseases
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice.
Bone Diseases
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
Bone Diseases
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.
Bone Diseases, Metabolic
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.
Carcinoma, Hepatocellular
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.
Dementia
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
Dementia
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.
Dementia
Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.
Dementia
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Dementia
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Dementia
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
Dementia
Clinical implications for dopaminergic and functional neuroimage research in cognitive symptoms of Parkinson's disease.
Dementia
D409H GBA1 mutation accelerates the progression of pathology in A53T ?-synuclein transgenic mouse model.
Dementia
Distinguishing Dementia With Lewy Bodies From Alzheimer's Disease: What is the Influence of the GBA Genotype in Ashkenazi Jews?
Dementia
Effects of glucocerebrosidase gene polymorphisms and mutations on the risk of Parkinson's disease dementia: A meta-analysis.
Dementia
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
Dementia
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Dementia
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Dementia
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.
Dementia
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
Dementia
Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.
Dementia
Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.
Dementia
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Dementia
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Dementia
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Dementia
Glucocerebrosidase reduces the spread of protein aggregation in a Drosophila melanogaster model of neurodegeneration by regulating proteins trafficked by extracellular vesicles.
Dementia
High Frequency of GBA Gene Mutations in Dementia With Lewy Bodies Among Ashkenazi Jews.
Dementia
Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Dementia
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Dementia
Mutant GBA1 Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models.
Dementia
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Dementia
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.
Dementia
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Dementia
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Dementia
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Dementia
Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
Dementia
The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews.
Dementia
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.
Dementia
Tool Compounds Robustly Increase Turnover of an Artificial Substrate by Glucocerebrosidase in Human Brain Lysates.
Dementia
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.
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.
Epilepsies, Myoclonic
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.
Essential Tremor
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
Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability.
Fabry Disease
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Fabry Disease
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Fabry Disease
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.
Fabry Disease
[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.
Frontotemporal Dementia
Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.
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.
Gaucher Disease
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.
Gaucher Disease
1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.
Gaucher Disease
2,3-di-O-tetradecyl-1-O-(beta-D-glucopyranosyl)-sn-glycerol is a substrate for human glucocerebrosidase.
Gaucher Disease
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
Gaucher Disease
?-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.
Gaucher Disease
A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase.
Gaucher Disease
A bicistronic therapeutic retroviral vector enables sorting of transduced CD34+ cells and corrects the enzyme deficiency in cells from Gaucher patients.
Gaucher Disease
A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver.
Gaucher Disease
A case of improved hearing with cochlear implantation in Gaucher disease type 1.
Gaucher Disease
A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types.
Gaucher Disease
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
Gaucher Disease
A common and two novel GBA mutations in Thai patients with Gaucher disease.
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.
Gaucher Disease
A comprehensive assessment of renal function in patients with Gaucher disease.
Gaucher Disease
A cytometric study of the red blood cells in Gaucher disease reveals their abnormal shape that may be involved in increased erythrophagocytosis.
Gaucher Disease
A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin.
Gaucher Disease
A flow cytometric assay enabling specific detection of the human lysosomal enzyme, beta-glucocerebrosidase.
Gaucher Disease
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
Gaucher Disease
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
Gaucher Disease
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide.
Gaucher Disease
A kinetic study of the effects of galactocerebroside 3-sulphate on human spleen glucocerebrosidase. Evidence for two activator-binding sites.
Gaucher Disease
A microfluidic device with fluorimetric detection for intracellular components analysis.
Gaucher Disease
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.
Gaucher Disease
A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.
Gaucher Disease
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
Gaucher Disease
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
Gaucher Disease
A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
Gaucher Disease
A New Glucocerebrosidase Chaperone Reduces ?-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
Gaucher Disease
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
Gaucher Disease
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
Gaucher Disease
A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.
Gaucher Disease
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
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.
Gaucher Disease
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
Gaucher Disease
A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease.
Gaucher Disease
A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.
Gaucher Disease
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.
Gaucher Disease
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease.
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.
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.
Gaucher Disease
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Gaucher Disease
A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation.
Gaucher Disease
A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients.
Gaucher Disease
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.
Gaucher Disease
A revised fluorometric assay for Gaucher's disease using conduritol-beta-epoxide with liver as the source of Beta-glucosidase.
Gaucher Disease
A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases.
Gaucher Disease
A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease.
Gaucher Disease
A simple and efficient purification of transduced cells by using green fluorescent protein gene as a selection marker.
Gaucher Disease
A study of acid beta-glucosidase in a patient with Gaucher disease and leukemia.
Gaucher Disease
A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.
Gaucher Disease
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.
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.
Gaucher Disease
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease.
Gaucher Disease
Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.
Gaucher Disease
Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase.
Gaucher Disease
Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience.
Gaucher Disease
Acid beta-glucosidase and the diagnosis of Gaucher's disease in liver and spleen.
Gaucher Disease
Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy.
Gaucher Disease
Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease.
Gaucher 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).
Gaucher Disease
Activation of human spleen glucocerebrosidases by monoacylglycol sulfates and diacylglycerol sulfates.
Gaucher Disease
Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease.
Gaucher Disease
Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients.
Gaucher Disease
Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
Gaucher Disease
Alglucerase enzyme replacement therapy used safely and effectively throughout the whole pregnancy of a Gaucher disease patient.
Gaucher Disease
Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement.
Gaucher Disease
Alglucerase. A pharmacoeconomic appraisal of its use in the treatment of Gaucher's disease.
Gaucher Disease
Alglucerase: practical guidance on appropriate dosage and administration in patients with Gaucher disease.
Gaucher Disease
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Gaucher Disease
Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.
Gaucher Disease
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
Gaucher Disease
Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease.
Gaucher Disease
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.
Gaucher Disease
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Gaucher Disease
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
Gaucher Disease
Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Gaucher Disease
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Gaucher Disease
Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease.
Gaucher Disease
An evidence-based review of the potential benefits of taliglucerase alfa in the treatment of patients with Gaucher disease.
Gaucher Disease
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease.
Gaucher Disease
An immunoelectron microscopic study of glucocerebrosidase in type 1 Gaucher's disease spleen.
Gaucher Disease
An improved fluorometric leukocyte beta-glucosidase assay for Gaucher's disease.
Gaucher Disease
An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside.
Gaucher Disease
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.
Gaucher Disease
Analyses of Variant Acid beta-Glucosidases: EFFECTS OF GAUCHER DISEASE MUTATIONS.
Gaucher Disease
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Gaucher Disease
Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.
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.
Gaucher Disease
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
Gaucher Disease
Analysis of the ?-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
Gaucher Disease
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Gaucher Disease
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Gaucher Disease
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
Gaucher Disease
Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase.
Gaucher Disease
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Gaucher Disease
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
Gaucher Disease
Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation.
Gaucher Disease
Assay of glucocerebrosidase using a fluorescent analogue of glucocerebroside for the diagnosis of Gaucher disease.
Gaucher Disease
Assessment of Bone Health in Patients with Type 1 Gaucher Disease Using Impact Microindentation.
Gaucher Disease
Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.
Gaucher Disease
Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia.
Gaucher Disease
beta-Glucosidase isoenzymes in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with type 1 Gaucher disease.
Gaucher Disease
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.
Gaucher Disease
Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages.
Gaucher Disease
Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease.
Gaucher Disease
Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage.
Gaucher Disease
Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme.
Gaucher Disease
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.
Gaucher Disease
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Gaucher Disease
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase.
Gaucher Disease
Bone marrow microenvironment in an in vitro model of Gaucher Disease: consequences of Glucocerebrosidase deficiency.
Gaucher Disease
Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: early Access Program results from Jerusalem.
Gaucher Disease
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?
Gaucher Disease
Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
Gaucher Disease
CD4(+)CD25(high)Foxp3(+) Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis.
Gaucher Disease
Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones.
Gaucher Disease
Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation.
Gaucher Disease
Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat.
Gaucher Disease
Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
Gaucher Disease
Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism.
Gaucher Disease
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Gaucher Disease
Characterization of Gene-activated Human Acid-{beta}-Glucosidase: Crystal Structure, Glycan Composition and Internalization into Macrophages.
Gaucher Disease
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.
Gaucher Disease
Characterization of glucocerebrosidase in peripheral blood cells and cultured blastoid cells.
Gaucher Disease
Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
Gaucher Disease
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.
Gaucher Disease
Characterization of the N370S Mutant of Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry.
Gaucher Disease
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
Gaucher Disease
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Gaucher Disease
Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity.
Gaucher Disease
Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
Gaucher Disease
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.
Gaucher Disease
Cholangiocarcinoma occurring in a patient with type 1 Gaucher disease treated with velaglucerase alfa enzyme replacement therapy: First case report.
Gaucher Disease
Chronic Gaucher's disease: heat-resistance of leukocyte glucocerebrosidase in relation to some clinical parameters.
Gaucher Disease
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement.
Gaucher Disease
Clinical and genetic characteristics of Korean patients with Gaucher disease.
Gaucher Disease
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.
Gaucher Disease
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.
Gaucher Disease
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Gaucher Disease
CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.
Gaucher Disease
Co-morbidity in Gaucher's disease results of a nationwide enquiry in Spain.
Gaucher Disease
Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease.
Gaucher Disease
Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease.
Gaucher Disease
Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia.
Gaucher Disease
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.
Gaucher Disease
Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease.
Gaucher Disease
Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.
Gaucher Disease
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model.
Gaucher Disease
Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease.
Gaucher Disease
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
Gaucher Disease
Comparison of rates of hydrolysis of N-oleoyl and N-stearoyl glucocerebroside in patients with Gaucher's disease.
Gaucher 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.
Gaucher Disease
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Gaucher Disease
Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene".
Gaucher Disease
Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant.
Gaucher Disease
Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy.
Gaucher Disease
Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.
Gaucher Disease
Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.
Gaucher Disease
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
Gaucher Disease
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease.
Gaucher Disease
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease.
Gaucher Disease
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
Gaucher Disease
Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol.
Gaucher Disease
Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.
Gaucher Disease
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
Gaucher Disease
Creating the costliest orphan. The Orphan Drug Act in the development of Ceredase.
Gaucher Disease
Critical Evaluation of Strategies for the Production of Blood Coagulation Factors in Plant-Based Systems.
Gaucher Disease
Cross-talks among GBA mutations, glucocerebrosidase, and ?-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.
Gaucher Disease
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.
Gaucher Disease
Crystallization and preliminary X-ray analysis of recombinant human acid beta-glucocerebrosidase, a treatment for Gaucher's disease.
Gaucher Disease
Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.
Gaucher Disease
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease.
Gaucher Disease
Decrease of plasma taurine in Gaucher disease and its sustained correction during enzyme replacement therapy.
Gaucher Disease
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
Gaucher Disease
Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases.
Gaucher Disease
Defective Self-Renewal and Differentiation of GBA-Deficient Neural Stem Cells Can Be Restored By Macrophage Colony-Stimulating Factor.
Gaucher Disease
Deficient activity of glucocerebrosidase in urine from patients with type 1 Gaucher disease.
Gaucher Disease
Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease.
Gaucher Disease
Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example.
Gaucher Disease
Delivery, distribution, and neuronal uptake of exogenous mannose-terminal glucocerebrosidase in the intact rat brain.
Gaucher Disease
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).
Gaucher Disease
Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model.
Gaucher Disease
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease.
Gaucher Disease
Dental observations in Gaucher's disease: review of the literature and two case reports with 13- and 60-year follow-ups.
Gaucher Disease
Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
Gaucher Disease
Detection and isolation of gene-corrected cells in Gaucher disease via a fluorescence-activated cell sorter assay for lysosomal glucocerebrosidase activity.
Gaucher Disease
Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gaucher's disease.
Gaucher 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.
Gaucher Disease
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.
Gaucher Disease
Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.
Gaucher Disease
Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages.
Gaucher Disease
Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.
Gaucher Disease
Diagnosis of adult Gaucher disease: use of a new chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside, in cultured skin fibroblasts.
Gaucher Disease
Differences in origin of the 1448C mutation in patients with Gaucher disease.
Gaucher Disease
Differential effects of enzyme supplementation therapy on manifestations of type 1 Gaucher disease.
Gaucher Disease
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.
Gaucher Disease
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.
Gaucher Disease
Direct Site-Specific Glycoform Identification and Quantitative Comparison of Glycoprotein Therapeutics: Imiglucerase and Velaglucerase Alfa.
Gaucher Disease
Discrepancies between genotype and phenotype in hematology: an important frontier.
Gaucher Disease
Disease state awareness in Gaucher disease: a q&a expert roundtable discussion.
Gaucher Disease
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
Gaucher Disease
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice.
Gaucher Disease
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.
Gaucher Disease
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
Gaucher Disease
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Gaucher Disease
Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.
Gaucher Disease
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.
Gaucher Disease
Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease.
Gaucher Disease
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss.
Gaucher Disease
Downregulation of neurotrophic factors in the brain of a mouse model of Gaucher disease; implications for neuronal loss in Gaucher disease.
Gaucher Disease
Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease.
Gaucher Disease
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
Gaucher Disease
Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).
Gaucher Disease
Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy.
Gaucher Disease
Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease.
Gaucher Disease
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.
Gaucher Disease
Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease.
Gaucher Disease
Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease.
Gaucher Disease
Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease.
Gaucher Disease
Effective desensitization to imiglucerase in a patient with type I Gaucher disease.
Gaucher Disease
Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review.
Gaucher Disease
Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease.
Gaucher Disease
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Gaucher Disease
Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes.
Gaucher Disease
Effects of switching from imiglucerase to velaglucerase alfa without dose reduction nor wash out in type 1 Gaucher disease.
Gaucher Disease
Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.
Gaucher Disease
Electrophoresis of glucocerebrosidase from normal and Gaucher disease fibroblasts.
Gaucher Disease
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.
Gaucher Disease
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models.
Gaucher Disease
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.
Gaucher Disease
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.
Gaucher Disease
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Gaucher Disease
Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
Gaucher Disease
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Gaucher Disease
Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.
Gaucher Disease
Endosperm-specific expression of human acid beta-glucosidase in a waxy rice.
Gaucher Disease
Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing.
Gaucher Disease
Enhanced calcium release in the acute neuronopathic form of Gaucher disease.
Gaucher Disease
Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease.
Gaucher Disease
Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease.
Gaucher Disease
Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia.
Gaucher Disease
Enzyme replacement therapy "drug holiday": Results from an unexpected shortage of an orphan drug supply in Australia.
Gaucher Disease
Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase.
Gaucher Disease
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.
Gaucher Disease
Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase.
Gaucher Disease
Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration.
Gaucher Disease
Enzyme replacement therapy in Gaucher's disease: preliminary clinical trial of a new enzyme preparation.
Gaucher Disease
Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease.
Gaucher Disease
Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease.
Gaucher Disease
Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.
Gaucher Disease
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Gaucher Disease
Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months.
Gaucher Disease
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Gaucher Disease
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources.
Gaucher Disease
Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease.
Gaucher Disease
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity.
Gaucher Disease
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease.
Gaucher Disease
Erratum to: Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
Gaucher Disease
EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE).
Gaucher Disease
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.
Gaucher Disease
Evaluation of neopterin as a biomarker for the monitoring of Gaucher disease patients.
Gaucher Disease
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
Gaucher Disease
Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage.
Gaucher Disease
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.
Gaucher Disease
Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging.
Gaucher Disease
Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model.
Gaucher Disease
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Gaucher Disease
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Gaucher 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.
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.
Gaucher Disease
Experiences after long-term treatment of a type I Gaucher disease patient with liposome-entrapped glucocerebroside: beta-glucosidase.
Gaucher Disease
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
Gaucher Disease
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.
Gaucher Disease
Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye.
Gaucher Disease
Expression of human glucocerebrosidase in murine macrophages: identification of efficient retroviral vectors.
Gaucher Disease
Extended interval between enzyme therapy infusions for adult patients with Gaucher's disease type 1.
Gaucher Disease
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.
Gaucher Disease
Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages.
Gaucher Disease
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.
Gaucher Disease
Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report.
Gaucher Disease
FKBP10 Depletion Enhances Glucocerebrosidase Proteostasis in Gaucher Disease Fibroblasts.
Gaucher Disease
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.
Gaucher Disease
Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease.
Gaucher Disease
Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Gaucher Disease
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Gaucher Disease
Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.
Gaucher Disease
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Gaucher Disease
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
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.
Gaucher Disease
Functionalized Cyclophellitols Are Selective Glucocerebrosidase Inhibitors and Induce a Bona Fide Neuropathic Gaucher Model in Zebrafish.
Gaucher Disease
Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards.
Gaucher Disease
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages.
Gaucher Disease
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Gaucher Disease
Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses.
Gaucher Disease
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
Gaucher Disease
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.
Gaucher Disease
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Gaucher Disease
Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
Gaucher Disease
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.
Gaucher Disease
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
Gaucher Disease
Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies.
Gaucher Disease
Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
Gaucher Disease
Gaucher disease in the liver on hepatocyte specific contrast agent enhanced MR imaging.
Gaucher Disease
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
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Gaucher Disease
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment.
Gaucher Disease
Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient.
Gaucher Disease
Gaucher disease type 3c: New patients with unique presentations and review of the literature.
Gaucher Disease
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
Gaucher Disease
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
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Gaucher Disease
Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null RecNciI GBA mutations.
Gaucher Disease
Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase.
Gaucher Disease
Gaucher disease, enzyme replacement therapy, and the Patient Assistance Program.
Gaucher Disease
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles.
Gaucher Disease
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
Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report).
Gaucher Disease
Gaucher disease: a century of delineation and research. Enzyme replacement therapy: model and clinical studies.
Gaucher Disease
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
Gaucher Disease
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
Gaucher Disease
Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
Gaucher Disease
Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.
Gaucher Disease
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
Gaucher Disease
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
Gaucher Disease
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
Gaucher Disease
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Gaucher Disease
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.
Gaucher Disease
Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue.
Gaucher Disease
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Gaucher Disease
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Gaucher Disease
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
Gaucher Disease
Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.
Gaucher Disease
Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts.
Gaucher Disease
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Gaucher Disease
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
Gaucher Disease
Gaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imiglucerase.
Gaucher Disease
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.
Gaucher Disease
Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations?
Gaucher Disease
Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.
Gaucher Disease
Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease.
Gaucher Disease
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report.
Gaucher Disease
Gaucher's disease: lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase.
Gaucher Disease
Gaucher's disease: lack of antibody response to intravenous glucocerebrosidase.
Gaucher Disease
Gaucher's disease: therapy by intravenous infusions of modified glucocerebrosidase.
Gaucher Disease
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
Gaucher Disease
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
Gaucher Disease
Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.
Gaucher Disease
Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
Gaucher Disease
Gene transfer and bone marrow transplantation with special reference to Gaucher's disease.
Gaucher Disease
Generation of a Chinese hamster ovary cell line producing recombinant human glucocerebrosidase.
Gaucher Disease
Generation of a conditional knockout of murine glucocerebrosidase: utility for the study of Gaucher disease.
Gaucher Disease
Generation of polyclonal antibodies against recombinant human glucocerebrosidase produced in Escherichia coli.
Gaucher Disease
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
Gaucher Disease
Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
Gaucher Disease
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
Gaucher Disease
Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.
Gaucher Disease
Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
Gaucher Disease
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Gaucher Disease
Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
Gaucher Disease
Global gene expression profile progression in Gaucher disease mouse models.
Gaucher Disease
Glucocerebrosidase "processing" and gene expression in various forms of Gaucher disease.
Gaucher Disease
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning.
Gaucher Disease
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.
Gaucher Disease
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Gaucher Disease
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Gaucher Disease
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
Gaucher Disease
Glucocerebrosidase deficiency and lysosomal storage of glucocerebroside induced in cultured macrophages.
Gaucher Disease
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Gaucher Disease
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
Gaucher Disease
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
Gaucher Disease
Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
Gaucher Disease
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Gaucher Disease
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/?-catenin signaling.
Gaucher Disease
Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
Gaucher Disease
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
Gaucher Disease
Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of ?-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.
Gaucher Disease
Glucocerebrosidase for treatment of Gaucher's disease: first German long-term results.
Gaucher Disease
Glucocerebrosidase gene mutations in black South Africans with Gaucher disease.
Gaucher Disease
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
Gaucher Disease
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
Gaucher Disease
Glucocerebrosidase haploinsufficiency in A53T ?-synuclein mice impacts disease onset and course.
Gaucher Disease
Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage.
Gaucher Disease
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Gaucher Disease
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Gaucher Disease
Glucocerebrosidase level in the cerebrospinal fluid during enzyme replacement therapy--unsuccessful treatment of the neurological abnormality in type 2 Gaucher disease.
Gaucher Disease
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
Gaucher Disease
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
Gaucher Disease
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.
Gaucher Disease
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Gaucher Disease
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Gaucher Disease
Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease.
Gaucher Disease
Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
Gaucher Disease
Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
Gaucher Disease
Glucocerebrosidase treatment of type I Gaucher disease with severe pulmonary involvement.
Gaucher Disease
Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
Gaucher Disease
Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent.
Gaucher Disease
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Gaucher Disease
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.
Gaucher Disease
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Gaucher Disease
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
Gaucher Disease
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
Gaucher Disease
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.
Gaucher Disease
Glucosylsphingosine promotes ?-synuclein pathology in mutant GBA-associated Parkinson's disease.
Gaucher Disease
Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase.
Gaucher Disease
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.
Gaucher Disease
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.
Gaucher Disease
HCG contamination of alglucerase: clinical implications in low-dose regimen.
Gaucher Disease
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.
Gaucher Disease
Hematopoietic stem cell transplantation for Gaucher disease.
Gaucher Disease
Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene.
Gaucher Disease
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.
Gaucher Disease
Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates.
Gaucher Disease
Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
Gaucher Disease
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
Gaucher Disease
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.
Gaucher Disease
High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.
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.
Gaucher Disease
High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.
Gaucher Disease
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase.
Gaucher Disease
High-resolution proton nuclear magnetic resonance studies of the glucocerebrosidase activator protein from Gaucher spleen.
Gaucher Disease
High-risk screening for Gaucher disease in patients with neurological symptoms.
Gaucher Disease
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy.
Gaucher Disease
Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones.
Gaucher Disease
Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease.
Gaucher Disease
Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.
Gaucher Disease
Home treatment with intravenous enzyme replacement therapy for Gaucher disease: an international collaborative study of 33 patients.
Gaucher Disease
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.
Gaucher Disease
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
Gaucher Disease
Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes.
Gaucher Disease
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?
Gaucher Disease
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.
Gaucher Disease
Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose.
Gaucher Disease
Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites.
Gaucher Disease
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.
Gaucher Disease
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites.
Gaucher Disease
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by ?-xylosidase and transxylosidase reactions.
Gaucher Disease
Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells.
Gaucher Disease
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
Gaucher Disease
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
Gaucher Disease
Hydrophobic Interactions Contribute to Conformational Stabilization of Endoglycoceramidase II by Mechanism-Based Probes.
Gaucher Disease
Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels.
Gaucher Disease
Hyposmia and cognitive impairment in Gaucher disease patients and carriers.
Gaucher Disease
Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
Gaucher Disease
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
Gaucher Disease
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
Gaucher Disease
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Gaucher Disease
Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
Gaucher Disease
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease.
Gaucher Disease
Identification of a feedback loop involving beta-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.
Gaucher Disease
Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
Gaucher Disease
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.
Gaucher Disease
Identification of factors regulating the expression of the human glucocerebrosidase gene.
Gaucher Disease
Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis.
Gaucher Disease
Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.
Gaucher Disease
Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry.
Gaucher Disease
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
Gaucher Disease
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.
Gaucher Disease
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Gaucher Disease
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.
Gaucher Disease
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2.
Gaucher Disease
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
Gaucher Disease
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
Gaucher Disease
Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
Gaucher Disease
Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.
Gaucher Disease
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease.
Gaucher Disease
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy.
Gaucher Disease
Imiglucerase in the treatment of Gaucher disease: a history and perspective.
Gaucher Disease
Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study.
Gaucher Disease
Immunoelectron microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver Kupffer cells.
Gaucher Disease
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.
Gaucher Disease
Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports.
Gaucher Disease
Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease.
Gaucher Disease
Immunological and isoelectric focusing study of beta-glucocerebrosidase from normal and Gaucher disease.
Gaucher Disease
Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration.
Gaucher Disease
Impact of Gba2 on neuronopathic Gaucher's disease and ?-synuclein accumulation in medaka (Oryzias latipes).
Gaucher Disease
Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.
Gaucher Disease
Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease.
Gaucher Disease
Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
Gaucher Disease
Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3.
Gaucher Disease
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.
Gaucher Disease
Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-Year follow-up.
Gaucher Disease
Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat.
Gaucher Disease
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
Gaucher Disease
Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages.
Gaucher Disease
Impaired migration capacity in monocytes derived from patients with Gaucher disease.
Gaucher Disease
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.
Gaucher Disease
Imprint cytology of Gaucher's disease presenting as a splenic mass. A case report with molecular approaches.
Gaucher Disease
Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain.
Gaucher Disease
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy.
Gaucher Disease
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa.
Gaucher Disease
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide.
Gaucher Disease
Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.
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.
Gaucher Disease
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.
Gaucher Disease
Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases.
Gaucher Disease
In silico and functional studies of the regulation of the glucocerebrosidase gene.
Gaucher Disease
In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.
Gaucher Disease
In vitro accumulation of glucocerebroside in neuroblastoma cells: a model for study of Gaucher disease pathobiology.
Gaucher Disease
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.
Gaucher Disease
In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase.
Gaucher Disease
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
Gaucher Disease
In vivo methotrexate selection of murine hemopoietic cells transduced with a retroviral vector for Gaucher disease.
Gaucher Disease
Incorporation of glucocerebrosidase into Gaucher's disease monocytes in vitro.
Gaucher Disease
Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging.
Gaucher Disease
Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes.
Gaucher Disease
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Gaucher Disease
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
Gaucher Disease
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Gaucher Disease
Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines.
Gaucher Disease
Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-?.
Gaucher Disease
Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.
Gaucher Disease
Initiation treatment with imiglucerase every 3 weeks in type 1 Gaucher disease.
Gaucher Disease
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Gaucher Disease
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.
Gaucher Disease
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients.
Gaucher Disease
Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators.
Gaucher Disease
Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
Gaucher Disease
Intracerebroventricular delivery of glucocerebrosidase reduces substrates and increases lifespan in a mouse model of neuronopathic Gaucher disease.
Gaucher Disease
Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.
Gaucher Disease
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
Gaucher Disease
Investigations on therapeutic glucocerebrosidases through paired detection with fluorescent activity-based probes.
Gaucher Disease
Involvement of hepcidin in iron metabolism dysregulation in Gaucher disease.
Gaucher Disease
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
Gaucher Disease
Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature.
Gaucher Disease
Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.
Gaucher Disease
Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease.
Gaucher Disease
ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher disease.
Gaucher Disease
Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients.
Gaucher Disease
Knockdown of chimeric glucocerebrosidase by green fluorescent protein-directed small interfering RNA.
Gaucher Disease
Knowledge of and Interest in Genetic Results Among Parkinson Disease Patients and Caregivers.
Gaucher Disease
Lacidipine remodels protein folding and Ca 2+ homeostasis in Gaucher's disease fibroblasts: a mechanism to rescue mutant glucocerebrosidase.
Gaucher Disease
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Gaucher 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.
Gaucher Disease
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice.
Gaucher Disease
Leukocyte glucocerebrosidase deficiency diagnostic in adult Gaucher's disease with negative bone marrow biopsy. Some properties of the enzyme in leukocytes and spleen.
Gaucher Disease
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.
Gaucher Disease
Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
Gaucher Disease
Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
Gaucher Disease
Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen.
Gaucher Disease
Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist.
Gaucher Disease
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment.
Gaucher Disease
Long-term efficacy and safety results of taliglucerase alfa through 5years in adult treatment-naïve patients with Gaucher disease.
Gaucher Disease
Long-term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment-naïve patients with Gaucher disease.
Gaucher Disease
Long-term expression and secretion of human glucocerebrosidase by primary murine and human myoblasts and differentiated myotubes.
Gaucher Disease
Long-term expression of the human glucocerebrosidase gene in vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector.
Gaucher Disease
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.
Gaucher Disease
Long-term safety and efficacy of taliglucerase alfa in pediatric Gaucher disease patients who were treatment-naïve or previously treated with imiglucerase.
Gaucher Disease
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.
Gaucher Disease
Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a.
Gaucher Disease
Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.
Gaucher Disease
Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment.
Gaucher Disease
Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease.
Gaucher Disease
Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen--diagnostic and therapeutic dilemmas.
Gaucher Disease
Lysosomal Cholesterol Accumulation Sensitizes To Acetaminophen Hepatotoxicity by Impairing Mitophagy.
Gaucher Disease
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Gaucher Disease
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
Gaucher Disease
Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
Gaucher Disease
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.
Gaucher Disease
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.
Gaucher Disease
Lysosome and Inflammatory Defects in GBA1-Mutant Astrocytes Are Normalized by LRRK2 Inhibition.
Gaucher Disease
Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.
Gaucher Disease
Macrophages exposed in vitro to conduritol B epoxide resemble Gaucher cells.
Gaucher Disease
Management of Gaucher disease in a post-communist transitional health care system: Croatian experience.
Gaucher Disease
Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.
Gaucher Disease
Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
Gaucher Disease
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.
Gaucher Disease
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention.
Gaucher Disease
Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard.
Gaucher Disease
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.
Gaucher Disease
Membrane-bound ?-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.
Gaucher Disease
Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.
Gaucher Disease
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.
Gaucher Disease
Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.
Gaucher Disease
Miglustat: new drug. In type 1 Gaucher's disease : a slight benefit after imiglucerase therapy.
Gaucher Disease
Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.
Gaucher Disease
Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.
Gaucher Disease
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.
Gaucher Disease
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.
Gaucher Disease
Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.
Gaucher Disease
Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease.
Gaucher Disease
Modifying exogenous glucocerebrosidase for effective replacement therapy in Gaucher disease.
Gaucher Disease
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
Gaucher Disease
Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
Gaucher Disease
Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.
Gaucher Disease
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Gaucher Disease
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Gaucher Disease
Molecular basis of reduced glucosylceramidase activity in the most common gaucher disease mutant N370S.
Gaucher Disease
Molecular biology of glucocerebrosidase and the treatment of Gaucher disease.
Gaucher Disease
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
Gaucher Disease
Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
Gaucher Disease
Molecular cloning and characterization of a translational inhibitory protein that binds to coding sequences of human acid beta-glucosidase and other mRNAs.
Gaucher Disease
Molecular docking and ADME properties of bioactive molecules against human acid-beta-glucosidase enzyme, cause of Gaucher's disease.
Gaucher Disease
Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
Gaucher Disease
Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease.
Gaucher Disease
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Gaucher Disease
Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.
Gaucher Disease
Murine MHC class II locus control region drives expression of human beta-glucocerebrosidase in antigen presenting cells of transgenic mice.
Gaucher Disease
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation.
Gaucher Disease
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
Gaucher Disease
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
Gaucher Disease
Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
Gaucher Disease
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
Gaucher Disease
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.
Gaucher Disease
Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
Gaucher Disease
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
Gaucher Disease
Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
Gaucher Disease
Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.
Gaucher Disease
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Gaucher Disease
Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
Gaucher Disease
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Gaucher Disease
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
Gaucher Disease
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Gaucher Disease
N-terminal amino-acid sequence of a sphingolipid activator protein missing in a new human Gaucher disease variant.
Gaucher Disease
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.
Gaucher Disease
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
Gaucher Disease
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
Gaucher Disease
Neuroinflammation and ?-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
Gaucher Disease
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
Gaucher Disease
Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?
Gaucher Disease
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.
Gaucher 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.
Gaucher Disease
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.
Gaucher Disease
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease.
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.
Gaucher Disease
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
Gaucher Disease
Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply.
Gaucher Disease
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease.
Gaucher Disease
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
Gaucher Disease
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Gaucher Disease
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Gaucher Disease
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.
Gaucher Disease
Open-label, expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy.
Gaucher Disease
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder.
Gaucher Disease
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening.
Gaucher Disease
Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.
Gaucher Disease
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.
Gaucher Disease
Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease.
Gaucher Disease
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy.
Gaucher Disease
Osteocyte Alterations Induce Osteoclastogenesis in an In Vitro Model of Gaucher Disease.
Gaucher Disease
Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults.
Gaucher Disease
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience.
Gaucher Disease
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease.
Gaucher Disease
Overexpression of human glucocerebrosidase containing different-sized leaders.
Gaucher Disease
Parkinson's disease phenotype is influenced by the severity of the mutations in the GBA gene.
Gaucher Disease
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.
Gaucher Disease
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Gaucher Disease
Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease.
Gaucher Disease
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.
Gaucher Disease
Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K.
Gaucher Disease
Pathological findings in Gaucher disease type 2 patients following enzyme therapy.
Gaucher Disease
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
Gaucher Disease
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
Gaucher Disease
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.
Gaucher Disease
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
Gaucher Disease
Pharmacokinetics of Novel Plant Cell-Expressed Taliglucerase Alfa in Adult and Pediatric Patients with Gaucher Disease.
Gaucher Disease
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
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.
Gaucher Disease
Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
Gaucher Disease
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
Gaucher Disease
Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes.
Gaucher Disease
Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide.
Gaucher Disease
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Gaucher Disease
Piperidine Azasugars Bearing Lipophilic Chains: Stereoselective Synthesis and Biological Activity as Inhibitors of Glucocerebrosidase (GCase).
Gaucher Disease
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease.
Gaucher Disease
Plant-based oral delivery of ?-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease.
Gaucher Disease
Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase.
Gaucher Disease
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.
Gaucher Disease
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.
Gaucher Disease
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Gaucher Disease
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
Gaucher Disease
Possible therapeutic effects of myxobacterial metabolites on type I Gaucher disease.
Gaucher Disease
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.
Gaucher Disease
Potent aminocyclitol glucocerebrosidase inhibitors are subnanomolar pharmacological chaperones for treating gaucher disease.
Gaucher Disease
Prenatal diagnosis of Gaucher's and Niemann-Pick diseases. Assays of glucocerebrosidase and sphingomyelinase in tissue cultures using natural substrates.
Gaucher Disease
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
Gaucher Disease
Preparation of glucocerebroside beta-glucosidase for entrapment in liposomes and treatment of patients with adult Gaucher's disease.
Gaucher Disease
Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
Gaucher Disease
Producing recombinant therapeutic glycoproteins with enhanced sialylation using CHO-gmt4 glycosylation mutant cells.
Gaucher Disease
Production and Purification of Recombinant Glucocerebrosidase in Transgenic Rice Cell Suspension Cultures.
Gaucher Disease
Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system.
Gaucher Disease
Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.
Gaucher Disease
Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy.
Gaucher Disease
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings.
Gaucher Disease
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology.
Gaucher Disease
Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
Gaucher Disease
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.
Gaucher Disease
Protective effect of recombinant human erythropoietin in type II Gaucher disease patient cells by scavenging endoplasmic reticulum stress.
Gaucher Disease
Pseudo-Gaucher's cells in association with common acute lymphoblastic leukemia.
Gaucher Disease
Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome.
Gaucher Disease
Pulmonary hypertension in two patients with type I Gaucher disease while on alglucerase therapy.
Gaucher Disease
Pulmonary involvement of Gaucher's disease in children: a common presentation in Saudi Arabia.
Gaucher Disease
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes?
Gaucher Disease
Purification and characterization of a cytosolic broad specificity beta-glucosidase from human liver.
Gaucher Disease
Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.
Gaucher Disease
Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells.
Gaucher Disease
Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol-Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease.
Gaucher Disease
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.
Gaucher Disease
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.
Gaucher Disease
Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease.
Gaucher Disease
Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model.
Gaucher Disease
Recombinant human acid beta-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblasts.
Gaucher Disease
Reconstitution of TCP80/NF90 translation inhibition activity in insect cells.
Gaucher Disease
RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
Gaucher Disease
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.
Gaucher Disease
Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.
Gaucher Disease
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Gaucher Disease
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease.
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.
Gaucher Disease
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.
Gaucher Disease
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
Gaucher Disease
Remodeling the proteostasis network to rescue glucocerebrosidase variants by inhibiting ER-associated degradation and enhancing ER folding.
Gaucher Disease
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease.
Gaucher Disease
Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.
Gaucher 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.
Gaucher Disease
Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease.
Gaucher Disease
Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
Gaucher Disease
Retroviral mediated transfer of the cDNA for human glucocerebrosidase into hematopoietic stem cells of patients with Gaucher disease. A phase I study.
Gaucher Disease
Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation.
Gaucher Disease
Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow.
Gaucher Disease
Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulating cells of patients with Gaucher's disease.
Gaucher Disease
Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy.
Gaucher Disease
Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.
Gaucher Disease
Role of ?-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.
Gaucher Disease
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
Gaucher Disease
Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease.
Gaucher Disease
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
Gaucher Disease
Safety and efficacy of velaglucerase alfa replacement therapy for patients with type 1 Gaucher disease.
Gaucher Disease
Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.
Gaucher Disease
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase.
Gaucher Disease
Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.
Gaucher Disease
Sequence, structural, functional, and phylogenetic analyses of three glycosidase families.
Gaucher Disease
Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease.
Gaucher Disease
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
Gaucher Disease
Severe systemic immune response syndrome, low plasma paraoxonase activity, and a new albumin species in a traumatized patient with Gaucher's disease.
Gaucher Disease
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
Gaucher Disease
Severity of bone marrow involvement in patients with Gaucher's disease evaluated by scintigraphy with 99mTc-sestamibi.
Gaucher Disease
Should repeated partial splenectomy be attempted in patients with hematological diseases? Technical pitfalls and causes of failure in Gaucher's disease.
Gaucher 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.
Gaucher Disease
Simultaneous Detection of Gaucher's Disease and Renal Involvement of non-Hodgkin's Lymphoma: the First Asian Case Report and a Review of Literature.
Gaucher Disease
Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.
Gaucher Disease
Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease.
Gaucher Disease
Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease.
Gaucher Disease
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Gaucher Disease
Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study.
Gaucher Disease
Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.
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.
Gaucher Disease
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.
Gaucher Disease
Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Gaucher Disease
Structural features of membrane-bound glucocerebrosidase and ?-synuclein probed by neutron reflectometry and fluorescence spectroscopy.
Gaucher Disease
Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease.
Gaucher Disease
Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease.
Gaucher Disease
Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes.
Gaucher Disease
Substrate reduction therapy with miglustat for type 1 Gaucher disease: A retrospective analysis from a single institution.
Gaucher Disease
Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.
Gaucher Disease
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
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.
Gaucher Disease
Successful rapid desensitization to imiglucerase in an adult patient with Gaucher disease and documented IgE-mediated hypersensitivity.
Gaucher Disease
Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report.
Gaucher Disease
Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase.
Gaucher Disease
Sulfogalactocerebroside and bis-(monoacylglyceryl)-phosphate as activators of spleen glucocerebrosidase.
Gaucher Disease
Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.
Gaucher Disease
Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris.
Gaucher Disease
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.
Gaucher Disease
Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells.
Gaucher Disease
Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
Gaucher Disease
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.
Gaucher Disease
Taliglucerase alfa in Gaucher disease: Description of a Brazilian experience.
Gaucher Disease
Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.
Gaucher Disease
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.
Gaucher Disease
The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease.
Gaucher Disease
The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.
Gaucher Disease
The association between lysosomal protein glucocerebrosidase and Parkinson's disease.
Gaucher Disease
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
Gaucher Disease
The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review.
Gaucher Disease
The Clinical Efficacy of Imiglucerase versus Eliglustat in Patients with Gaucher's Disease Type 1: A Systematic Review.
Gaucher Disease
The combination of plant translational enhancers and terminator increase the expression of human glucocerebrosidase in Nicotiana benthamiana plants.
Gaucher Disease
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
Gaucher Disease
The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation.
Gaucher Disease
The effect of N-octyl-beta-valienamine on beta-glucosidase activity in tissues of normal mice.
Gaucher Disease
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease.
Gaucher Disease
The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease.
Gaucher Disease
The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.
Gaucher Disease
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Gaucher Disease
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.
Gaucher Disease
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
Gaucher Disease
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
Gaucher Disease
The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation.
Gaucher Disease
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms.
Gaucher Disease
The increased sensitivity of neurons with elevated glucocerebroside to neurotoxic agents can be reversed by imiglucerase.
Gaucher Disease
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
Gaucher Disease
The long-term international safety experience of imiglucerase therapy for Gaucher disease.
Gaucher Disease
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Gaucher Disease
The myo-1,2-Diaminocyclitol Scaffold Defines Potent Glucocerebrosidase Activators and Promising Pharmacological Chaperones for Gaucher Disease.
Gaucher Disease
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
Gaucher Disease
The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).
Gaucher Disease
The occurrence of beta-glucocerebrosidase activity in the glucocerebroside-rich deposits of Gaucher's disease.
Gaucher Disease
The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen.
Gaucher Disease
The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.
Gaucher Disease
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases.
Gaucher Disease
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.
Gaucher Disease
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.
Gaucher Disease
The Production of Human ?-Glucocerebrosidase in Nicotiana benthamiana Root Culture.
Gaucher Disease
The relationship between glucocerebrosidase mutations and Parkinson disease.
Gaucher Disease
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.
Gaucher Disease
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
Gaucher Disease
The Spectrum of Neurological Manifestations Associated with Gaucher Disease.
Gaucher Disease
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
Gaucher Disease
The studies on substrate, product and inhibitor binding to a wild-type and neuronopathic form of human acid-beta-glucosidase.
Gaucher Disease
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.
Gaucher Disease
The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China.
Gaucher Disease
Thematic review series: Skin Lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.
Gaucher Disease
Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease.
Gaucher Disease
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease.
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.
Gaucher Disease
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Gaucher Disease
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.
Gaucher Disease
Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
Gaucher Disease
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Gaucher Disease
Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D).
Gaucher Disease
Thromboelastography Before Epidural Placement in a Thrombocytopenic Parturient With Gaucher Disease Treated With Imiglucerase: A Case Report.
Gaucher Disease
Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.
Gaucher Disease
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.
Gaucher Disease
Tool Compounds Robustly Increase Turnover of an Artificial Substrate by Glucocerebrosidase in Human Brain Lysates.
Gaucher Disease
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Gaucher Disease
Transduction of mobilized peripheral blood CD34+ cells with the glucocerebrosidase cDNA.
Gaucher Disease
Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients: successful engraftment and long-term expression of the transgene.
Gaucher Disease
Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.
Gaucher Disease
Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland.
Gaucher Disease
Translation modulation of acid beta-glucosidase in HepG2 cells: participation of the PKC pathway.
Gaucher Disease
Translational inefficiency of acid beta-glucosidase mRNA in transgenic mammalian cells.
Gaucher Disease
Treatment of Gaucher's disease with liposome-entrapped glucocerebroside: beta-glucosidase.
Gaucher Disease
Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.
Gaucher Disease
Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.
Gaucher Disease
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
Gaucher Disease
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
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.
Gaucher Disease
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
Gaucher Disease
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
Gaucher Disease
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
Gaucher Disease
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Gaucher Disease
Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients.
Gaucher Disease
Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
Gaucher 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.
Gaucher Disease
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
Gaucher Disease
Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy.
Gaucher Disease
Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
Gaucher Disease
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
Gaucher Disease
Ultrasensitive in situ visualization of active glucocerebrosidase molecules.
Gaucher Disease
Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry.
Gaucher Disease
Uncoupling of osteoblast-osteoclast regulation in a chemical murine model of Gaucher disease.
Gaucher Disease
Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.
Gaucher Disease
Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.
Gaucher Disease
Use of fluorescent substrates for characterization of Gaucher disease mutations.
Gaucher Disease
Use of plain radiography to optimize skeletal outcomes in children with type 1 Gaucher disease in Brazil.
Gaucher Disease
Using transgenic plants and modified plant viruses for the development of treatments for human diseases.
Gaucher Disease
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
Gaucher Disease
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy.
Gaucher Disease
Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.
Gaucher Disease
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
Gaucher Disease
Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.
Gaucher Disease
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
Gaucher Disease
Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
Gaucher Disease
Viral delivery of a microRNA to Gba to the mouse central nervous system models neuronopathic Gaucher disease.
Gaucher Disease
Visualization of Active Glucocerebrosidase in Rodent Brain with High Spatial Resolution following In Situ Labeling with Fluorescent Activity Based Probes.
Gaucher Disease
Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis.
Gaucher Disease
VP22 enhances the expression of glucocerebrosidase in human Gaucher II fibroblast cells mediated by lentiviral vectors.
Gaucher Disease
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease.
Gaucher Disease
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.
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.
Gaucher Disease
[A retrospective study on enzyme replacement therapy in patients with Gaucher disease]
Gaucher Disease
[Alglucerase treatment of type I Gaucher's disease. Preliminary results in Spain. Spanish Group on Gaucher's Disease]
Gaucher Disease
[Anesthetic management involving difficult intubation in a child with Gaucher disease]
Gaucher Disease
[Application of plasma glucosylsphingosine detection in the follow-up of patients with Gaucher disease].
Gaucher Disease
[Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity]
Gaucher Disease
[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].
Gaucher Disease
[Clinical and nutritional aspects of Gaucher disease: prospective study of 13 children at a single center]
Gaucher Disease
[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype]
Gaucher Disease
[Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Cérédase)]
Gaucher Disease
[Current development and usefulness of biomarkers for Gaucher disease follow up]
Gaucher Disease
[Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy centers in the year 2000]
Gaucher Disease
[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].
Gaucher Disease
[Distribution of mutations of acid beta-D-glucosidase gene (GBA) among 68 Russian patients with Gaucher's disease]
Gaucher Disease
[Enzyme replacement therapy for Gaucher disease introduced in late adulthood].
Gaucher Disease
[Enzyme replacement therapy for Gaucher paediatric disease: the only Tunisian experience]
Gaucher Disease
[Epidemiologic, clinical, biological and therapeutic aspects of Gaucher disease]
Gaucher Disease
[Gaucher disease--guidelines for diagnosis and management of adult patients].
Gaucher Disease
[Gaucher's Disease and Imiglucerase in 2009/2010: What Leads to a Suddenly Enforced Prioritisation?]
Gaucher Disease
[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]
Gaucher Disease
[Gene therapy of Gaucher's and Fabry's diseases: current status and prospects]
Gaucher Disease
[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)]
Gaucher Disease
[High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease].
Gaucher Disease
[In vitro proven glucocerebrosidase defect: a non-neuronal type of Gaucher's disease in adults]
Gaucher Disease
[Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]
Gaucher Disease
[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous]
Gaucher Disease
[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]
Gaucher Disease
[Neurophysiolgical analysis in an 18-month-old girl with Gaucher's disease type 2]
Gaucher Disease
[Osteoarticular manifestations of Gaucher's Disease and imiglucerase efficacy on bone mineral density in adults. Review of literature].
Gaucher Disease
[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]
Gaucher Disease
[Properties of the molecular forms of beta-glucosidase and beta-glucocerebrosidase from normal human and Gaucher disease spleen (author's transl)]
Gaucher Disease
[Safety of use of velaglucerase in 2 patients with type 1 Gaucher's disease].
Gaucher Disease
[The active site of human glucocerebrosidase: structural predictions and experimental validations]
Gaucher Disease
[Uveitis masquerade syndrome in Gaucher disease. Causal treatment by alglucerase substitution therapy]
Gaucher Disease
{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.
Genetic Diseases, Inborn
Coexistence of factor XI (plasma thromboplastin antecedent) deficiency and Gaucher's disease.
Genetic Diseases, Inborn
Creating genetics-based infusion centers: a case study of two models.
Genetic Diseases, Inborn
Effects of sphingolipids overload on red blood cell properties in Gaucher disease.
Genetic Diseases, Inborn
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Genetic Diseases, Inborn
The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches.
Genetic Diseases, Inborn
[Anesthetic management in a pregnant woman with type 1 Gaucher disease]
Genetic Diseases, Inborn
[Epidemiologic, clinical, biological and therapeutic aspects of Gaucher disease]
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.
glucosylceramidase deficiency
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
glucosylceramidase deficiency
Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease.
glucosylceramidase deficiency
Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.
glucosylceramidase deficiency
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.
glucosylceramidase deficiency
An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-beta-D-glucopyranoside.
glucosylceramidase deficiency
Assessment of Bone Health in Patients with Type 1 Gaucher Disease Using Impact Microindentation.
glucosylceramidase deficiency
Bone marrow microenvironment in an in vitro model of Gaucher Disease: consequences of Glucocerebrosidase deficiency.
glucosylceramidase deficiency
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
glucosylceramidase deficiency
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.
glucosylceramidase deficiency
Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia.
glucosylceramidase deficiency
Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant.
glucosylceramidase deficiency
Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy.
glucosylceramidase deficiency
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
glucosylceramidase deficiency
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease.
glucosylceramidase deficiency
Coxarthritis as the presenting symptom of Gaucher disease type 1.
glucosylceramidase deficiency
Development of safe and efficient retroviral vectors for Gaucher disease.
glucosylceramidase deficiency
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
glucosylceramidase deficiency
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss.
glucosylceramidase deficiency
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models.
glucosylceramidase deficiency
Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease.
glucosylceramidase deficiency
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
glucosylceramidase deficiency
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
glucosylceramidase deficiency
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
glucosylceramidase deficiency
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
glucosylceramidase deficiency
Gaucher's disease: report of 11 cases with review of literature.
glucosylceramidase deficiency
GBA1-associated parkinsonism: new insights and therapeutic opportunities.
glucosylceramidase deficiency
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
glucosylceramidase deficiency
Glucocerebrosidase deficiency and lysosomal storage of glucocerebroside induced in cultured macrophages.
glucosylceramidase deficiency
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
glucosylceramidase deficiency
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease.
glucosylceramidase deficiency
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
glucosylceramidase deficiency
Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
glucosylceramidase deficiency
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
glucosylceramidase deficiency
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/?-catenin signaling.
glucosylceramidase deficiency
Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
glucosylceramidase deficiency
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
glucosylceramidase deficiency
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.
glucosylceramidase deficiency
Glucocerebrosidase haploinsufficiency in A53T ?-synuclein mice impacts disease onset and course.
glucosylceramidase deficiency
Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.
glucosylceramidase deficiency
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.
glucosylceramidase deficiency
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.
glucosylceramidase deficiency
Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports.
glucosylceramidase deficiency
Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.
glucosylceramidase deficiency
Leukocyte glucocerebrosidase deficiency diagnostic in adult Gaucher's disease with negative bone marrow biopsy. Some properties of the enzyme in leukocytes and spleen.
glucosylceramidase deficiency
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
glucosylceramidase deficiency
Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
glucosylceramidase deficiency
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.
glucosylceramidase deficiency
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
glucosylceramidase deficiency
N-terminal amino-acid sequence of a sphingolipid activator protein missing in a new human Gaucher disease variant.
glucosylceramidase deficiency
Neuroinflammation and ?-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
glucosylceramidase deficiency
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
glucosylceramidase deficiency
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
glucosylceramidase deficiency
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.
glucosylceramidase deficiency
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.
glucosylceramidase deficiency
Preliminary evidence for a processing error in the biosynthesis of Gaucher activator in mucolipidosis disease types II and III.
glucosylceramidase deficiency
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
glucosylceramidase deficiency
Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease.
glucosylceramidase deficiency
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings.
glucosylceramidase deficiency
Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.
glucosylceramidase deficiency
Role of ?-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.
glucosylceramidase deficiency
Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease.
glucosylceramidase deficiency
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
glucosylceramidase deficiency
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
glucosylceramidase deficiency
Twin pairs showing discordance of phenotype in adult Gaucher's disease.
glucosylceramidase deficiency
Type 2 Gaucher disease: 15 new cases and review of the literature.
glucosylceramidase deficiency
Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.
glucosylceramidase deficiency
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.
glucosylceramidase deficiency
[Colombian haplotypes of the Gaucher disease-causing N370S mutation may originate from a possible common ancestral haplotype]
glucosylceramidase deficiency
[Current development and usefulness of biomarkers for Gaucher disease follow up]
glucosylceramidase deficiency
[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].
glucosylceramidase deficiency
[Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)]
glucosylceramidase deficiency
[Lipid thesaurismosis rheumatism. Joint manifestation during glucocerebrosidase deficiency (Gaucher's disease). Ultrastructural study of the synovial membrane]
Glycogen Storage Disease
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease.
Hand, Foot and Mouth Disease
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Hepatomegaly
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Hepatomegaly
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
Hepatomegaly
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Hepatomegaly
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
Hepatomegaly
[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.
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.
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.
Hydrops Fetalis
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.
Hydrops Fetalis
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.
Hydrops Fetalis
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.
Hypersensitivity
Effective desensitization to imiglucerase in a patient with type I Gaucher disease.
Hypersensitivity
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Hypersensitivity
Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease.
Hypersensitivity
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
Pulmonary hypertension developing after alglucerase therapy in two patients with type 1 Gaucher disease complicated by the hepatopulmonary syndrome.
Hypertension, Pulmonary
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.
Infections
Antiviral activity of acid beta-glucosidase 1 on enterovirus 71, a causative agent of hand, foot and mouth disease.
Infections
Effect of cellular type on expression of acid beta-glucosidase: implications for gene therapy in Gaucher disease.
Infections
Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis.
Infections
Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector.
Infections
High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells.
Infections
Rational scale-up of a baculovirus-insect cell batch process based on medium nutritional depth.
Influenza, Human
Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis.
Influenza, Human
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
Evaluation of expression of transferred genes in differentiating myeloid cells: expression of human glucocerebrosidase in murine macrophages.
Leukemia
Expression of human glucocerebrosidase in long-term reconstituted mice following retroviral-mediated gene transfer into hematopoietic stem cells.
Leukemia
Expression of human glucocerebrosidase in murine long-term bone marrow cultures after retroviral vector-mediated transfer.
Leukemia
High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells.
Leukemia
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.
Lewy Body Disease
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Lewy Body Disease
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Lewy Body Disease
Glucocerebrosidase Mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.
Lewy Body Disease
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Lewy Body Disease
Glucocerebrosidase regulators SCARB2 and TFEB are up-regulated in Lewy body disease brain.
Lewy Body Disease
Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Lewy Body Disease
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.
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?
Lysosomal Storage Diseases
A comprehensive assessment of renal function in patients with Gaucher disease.
Lysosomal Storage Diseases
A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment.
Lysosomal Storage Diseases
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.
Lysosomal Storage Diseases
Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis.
Lysosomal Storage Diseases
Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding.
Lysosomal Storage Diseases
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human ?-glucocerebrosidase.
Lysosomal Storage Diseases
Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease.
Lysosomal Storage Diseases
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Lysosomal Storage Diseases
Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Lysosomal Storage Diseases
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.
Lysosomal Storage Diseases
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
Lysosomal Storage Diseases
Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation.
Lysosomal Storage Diseases
Characterization of Gene-activated Human Acid-{beta}-Glucosidase: Crystal Structure, Glycan Composition and Internalization into Macrophages.
Lysosomal Storage Diseases
Characterization of neuronopathic Gaucher disease among ethnic Poles.
Lysosomal Storage Diseases
Chemical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants.
Lysosomal Storage Diseases
Clinical and genetic characteristics of Korean patients with Gaucher disease.
Lysosomal Storage Diseases
Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
Lysosomal Storage Diseases
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.
Lysosomal Storage Diseases
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.
Lysosomal Storage Diseases
Enzyme therapy in Gaucher disease type 1: effect of neutralizing antibodies to acid beta-glucosidase.
Lysosomal Storage Diseases
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity.
Lysosomal Storage Diseases
Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Lysosomal Storage Diseases
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.
Lysosomal Storage Diseases
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.
Lysosomal Storage Diseases
Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age.
Lysosomal Storage Diseases
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.
Lysosomal Storage Diseases
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
Lysosomal Storage Diseases
Gaucher disease: haematological presentations and complications.
Lysosomal Storage Diseases
Gaucher disease: molecular screening of the glucocerebrosidase 1601G and 1601A alleles in Victoria, British Columbia, Canada.
Lysosomal Storage Diseases
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.
Lysosomal Storage Diseases
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
Lysosomal Storage Diseases
GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.
Lysosomal Storage Diseases
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Lysosomal Storage Diseases
Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma.
Lysosomal Storage Diseases
Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
Lysosomal Storage Diseases
Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.
Lysosomal Storage Diseases
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Lysosomal Storage Diseases
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.
Lysosomal Storage Diseases
Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy.
Lysosomal Storage Diseases
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
Lysosomal Storage Diseases
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
Lysosomal Storage Diseases
Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports.
Lysosomal Storage Diseases
Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.
Lysosomal Storage Diseases
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models.
Lysosomal Storage Diseases
Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature.
Lysosomal Storage Diseases
Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients.
Lysosomal Storage Diseases
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Lysosomal Storage Diseases
Molecular regulations and therapeutic targets of Gaucher disease.
Lysosomal Storage Diseases
Mutation analysis of type II Gaucher disease in five Taiwanese children: identification of two novel mutations.
Lysosomal Storage Diseases
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Lysosomal Storage Diseases
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant ?-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
Lysosomal Storage Diseases
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Lysosomal Storage Diseases
Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.
Lysosomal Storage Diseases
Scintigraphic findings on 99mTc-MDP, 99mTc-sestamibi and 99mTc-HMPAO images in Gaucher's disease.
Lysosomal Storage Diseases
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
Lysosomal Storage Diseases
Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis.
Lysosomal Storage Diseases
Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.
Lysosomal Storage Diseases
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.
Lysosomal Storage Diseases
Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.
Lysosomal Storage Diseases
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
Lysosomal Storage Diseases
Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity.
Lysosomal Storage Diseases
Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.
Lysosomal Storage Diseases
Viable neuronopathic Gaucher disease model in Medaka (Oryzias latipes) displays axonal accumulation of alpha-synuclein.
Lysosomal Storage Diseases
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease.
Melanoma
Parkinson's disease I: glucocerebrosidase mutations, family history of melanoma and questionable effects of rasagiline.
Menorrhagia
The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).
Metabolic Diseases
[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.
Movement Disorders
Disease Modification in Parkinson's Disease: Current Approaches, Challenges, and Future Considerations.
Movement Disorders
Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.
Movement Disorders
Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.
Movement Disorders
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Movement Disorders
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Movement Disorders
Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients.
Movement Disorders
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.
Mucolipidoses
Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation.
Mucolipidoses
Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases.
Mucolipidoses
The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study.
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.
Multiple System Atrophy
Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy.
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.
Neoplasms
Enzyme replacement therapy for Gaucher's disease in patient treated for non-small cell lung cancer.
Neoplasms
Increased activity of lysosomal glycohydrolases in glioma tissue and surrounding areas from human brain.
Neoplasms
Status of the Parkinson's disease gene family expression in non-small-cell lung cancer.
Neuroblastoma
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.
Neuroblastoma
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.
Neurodegenerative Diseases
Genetics of sporadic disease: insights from high-throughput sequencing -Parkinson disease-.
Neurodegenerative Diseases
Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles.
Neurodegenerative Diseases
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Neurodegenerative Diseases
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Neurodegenerative Diseases
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Neurodegenerative Diseases
The relationship between glucocerebrosidase mutations and Parkinson disease.
Neurodegenerative Diseases
[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.
Neuroinflammatory Diseases
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.
Neuroinflammatory Diseases
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.
Neurologic Manifestations
Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.
Neurologic Manifestations
Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 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.
Niemann-Pick Diseases
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C.
Niemann-Pick Diseases
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.
Pancytopenia
[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.
Paraproteinemias
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.
Parkinson Disease
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers.
Parkinson Disease
A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.
Parkinson Disease
A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson's disease.
Parkinson Disease
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
Parkinson Disease
A New Glucocerebrosidase Chaperone Reduces ?-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.
Parkinson Disease
A novel glucosylceramide synthase inhibitor attenuates alpha synuclein pathology and lysosomal dysfunction in preclinical models of synucleinopathy.
Parkinson Disease
A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients.
Parkinson Disease
A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.
Parkinson Disease
Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.
Parkinson Disease
Advances in GBA-associated Parkinson's disease - Pathology, presentation and therapies.
Parkinson Disease
Aggregation of ?-synuclein in brain samples from subjects with glucocerebrosidase mutations.
Parkinson Disease
Altered ceramide metabolism is a feature in the extracellular vesicle-mediated spread of alpha-synuclein in Lewy body disorders.
Parkinson Disease
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.
Parkinson Disease
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells.
Parkinson Disease
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Parkinson Disease
Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.
Parkinson Disease
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells.
Parkinson Disease
Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.
Parkinson Disease
Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.
Parkinson Disease
Association of Common Variants in the Glucocerebrosidase Gene with High Susceptibility to Parkinson's Disease among Chinese.
Parkinson Disease
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Parkinson Disease
Association of GBA Genotype With Motor and Functional Decline in Patients With Newly Diagnosed Parkinson Disease.
Parkinson Disease
Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.
Parkinson Disease
Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.
Parkinson Disease
Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.
Parkinson Disease
Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China.
Parkinson Disease
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Parkinson Disease
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.
Parkinson Disease
Behavioral Phenotyping in a Murine Model of GBA1-Associated Parkinson Disease.
Parkinson Disease
Bioinformatics analysis and identification of genes and molecular pathways involved in Parkinson's disease in patients with mutations in the glucocerebrosidase gene.
Parkinson Disease
Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.
Parkinson Disease
Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.
Parkinson Disease
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Parkinson Disease
Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease.
Parkinson Disease
Cerebrospinal Fluid Profiles in Parkinson's Disease: No Accumulation of Glucosylceramide, but Significant Downregulation of Active Complement C5 Fragment.
Parkinson Disease
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.
Parkinson Disease
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.
Parkinson Disease
Clinical implications for dopaminergic and functional neuroimage research in cognitive symptoms of Parkinson's disease.
Parkinson Disease
Clinical profiles of Parkinson's disease associated with common leucine-rich repeat kinase 2 and glucocerebrosidase genetic variants in Chinese individuals.
Parkinson Disease
Clinical, genetic, and brain sonographic features related to Parkinson's disease in Gaucher disease.
Parkinson Disease
Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.
Parkinson Disease
Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers.
Parkinson Disease
Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers.
Parkinson Disease
Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.
Parkinson Disease
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.
Parkinson Disease
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
Parkinson Disease
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.
Parkinson Disease
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.
Parkinson Disease
Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan.
Parkinson Disease
Cross-talks among GBA mutations, glucocerebrosidase, and ?-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.
Parkinson Disease
Cytokines and Gaucher Biomarkers in Glucocerebrosidase Carriers with and Without Parkinson Disease.
Parkinson Disease
D409H GBA1 mutation accelerates the progression of pathology in A53T ?-synuclein transgenic mouse model.
Parkinson Disease
Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study.
Parkinson Disease
Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases.
Parkinson Disease
Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene.
Parkinson Disease
Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.
Parkinson Disease
Did ?-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease.
Parkinson Disease
Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains.
Parkinson Disease
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C.
Parkinson Disease
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.
Parkinson Disease
Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons.
Parkinson Disease
Effects of glucocerebrosidase gene polymorphisms and mutations on the risk of Parkinson's disease dementia: A meta-analysis.
Parkinson Disease
Emerging insights into the mechanistic link between ?-synuclein and glucocerebrosidase in Parkinson's disease.
Parkinson Disease
Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease.
Parkinson Disease
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular ?-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
Parkinson Disease
Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation-Positive Cohort.
Parkinson Disease
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Parkinson Disease
Exploring the Genotype-Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers.
Parkinson Disease
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Parkinson Disease
Fibroblasts from idiopathic Parkinson's disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2.
Parkinson Disease
First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L.
Parkinson Disease
Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.
Parkinson Disease
Functionalized Cyclophellitols Are Selective Glucocerebrosidase Inhibitors and Induce a Bona Fide Neuropathic Gaucher Model in Zebrafish.
Parkinson Disease
Gait asymmetry in glucocerebrosidase mutation carriers with Parkinson's disease.
Parkinson Disease
Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle.
Parkinson Disease
GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models.
Parkinson Disease
GBA mutations in Parkinson disease: earlier death but similar neuropathological features.
Parkinson Disease
GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease.
Parkinson Disease
GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.
Parkinson Disease
GBA RNAi but not catalytic inhibition of glucocerebrosidase with Conduritol-?-epoxide increases levels of total ?-synuclein in SH-SY5Y cells.
Parkinson Disease
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.
Parkinson Disease
GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure.
Parkinson Disease
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.
Parkinson Disease
Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.
Parkinson Disease
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
Parkinson Disease
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Parkinson Disease
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Parkinson Disease
Genetics of sporadic disease: insights from high-throughput sequencing -Parkinson disease-.
Parkinson Disease
Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning.
Parkinson Disease
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Parkinson Disease
Glucocerebrosidase Activity is Reduced in Cryopreserved Parkinson's Disease Patient Monocytes and Inversely Correlates with Motor Severity.
Parkinson Disease
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Parkinson Disease
Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.
Parkinson Disease
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant ?-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
Parkinson Disease
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Parkinson Disease
Glucocerebrosidase deficiency in dopaminergic neurons induces microglial activation without neurodegeneration.
Parkinson Disease
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains.
Parkinson Disease
Glucocerebrosidase deficiency promotes release of ?-synuclein fibrils from cultured neurons.
Parkinson Disease
Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
Parkinson Disease
Glucocerebrosidase Gene Mutation and Preclinical Markers of Parkinson Disease.
Parkinson Disease
Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.
Parkinson Disease
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.
Parkinson Disease
Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia.
Parkinson Disease
Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.
Parkinson Disease
Glucocerebrosidase gene mutations associated with Parkinson's disease: a meta-analysis in a Chinese population.
Parkinson Disease
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
Parkinson Disease
Glucocerebrosidase Gene Therapy Induces Alpha-Synuclein Clearance and Neuroprotection of Midbrain Dopaminergic Neurons in Mice and Macaques.
Parkinson Disease
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.
Parkinson Disease
Glucocerebrosidase gene variants in parkinsonian patients with Machado Joseph/spinocerebellar ataxia 3.
Parkinson Disease
Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment.
Parkinson Disease
Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease.
Parkinson Disease
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Parkinson Disease
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Parkinson Disease
Glucocerebrosidase L444P mutation confers genetic risk for Parkinson's disease in central China.
Parkinson Disease
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
Parkinson Disease
Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.
Parkinson Disease
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.
Parkinson Disease
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Parkinson Disease
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Parkinson Disease
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.
Parkinson Disease
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Parkinson Disease
Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease.
Parkinson Disease
Glucocerebrosidase mutations in a French-canadian Parkinson's disease cohort.
Parkinson Disease
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Parkinson Disease
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Parkinson Disease
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Parkinson Disease
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.
Parkinson Disease
Glucocerebrosidase mutations: tipping point toward Parkinson disease and dementia?
Parkinson Disease
Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients.
Parkinson Disease
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
Parkinson Disease
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.
Parkinson Disease
Glucosylsphingosine promotes ?-synuclein pathology in mutant GBA-associated Parkinson's disease.
Parkinson Disease
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
Parkinson 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.
Parkinson Disease
Imaging in Glucocerebrosidase-Associated Parkinsonism: Current Status and Implications for Pathophysiology.
Parkinson Disease
Impact of Gba2 on neuronopathic Gaucher's disease and ?-synuclein accumulation in medaka (Oryzias latipes).
Parkinson Disease
Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.
Parkinson Disease
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload.
Parkinson Disease
Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging.
Parkinson Disease
Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.
Parkinson Disease
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene.
Parkinson Disease
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Parkinson Disease
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data.
Parkinson Disease
L444P Gba1 mutation increases formation and spread of ?-synuclein deposits in mice injected with mouse ?-synuclein pre-formed fibrils.
Parkinson Disease
Lack of association between LRRK2 G2385R and cognitive dysfunction in Korean patients with Parkinson's disease.
Parkinson Disease
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.
Parkinson Disease
Leukocyte glucocerebrosidase and ?-hexosaminidase activity in sporadic and genetic Parkinson disease.
Parkinson Disease
Lewy Body-like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and ?-Synuclein Mutations.
Parkinson Disease
Lipid-dependent deposition of alpha-synuclein and Tau on neuronal Secretogranin II-positive vesicular membranes with age.
Parkinson Disease
Longitudinal clinical, cognitive, and neuroanatomical changes over 5 years in GBA-positive Parkinson's disease patients.
Parkinson Disease
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson's patients.
Parkinson Disease
LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients.
Parkinson Disease
LRRK2 Kinase Inhibition Rescues Deficits in Lysosome Function Due to Heterozygous GBA1 Expression in Human iPSC-Derived Neurons.
Parkinson Disease
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Parkinson Disease
Lysosomal Enzyme Glucocerebrosidase Protects against A?1-42 Oligomer-Induced Neurotoxicity.
Parkinson Disease
Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
Parkinson Disease
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.
Parkinson Disease
Membrane-bound ?-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.
Parkinson Disease
Mini review - The role of Glucocerebrosidase and Progranulin as possible targets in the treatment of Parkinson's disease.
Parkinson Disease
Mitochondria and quality control defects in a mouse model of Gaucher disease--links to Parkinson's disease.
Parkinson Disease
Mitochondrial dysfunction and mitophagy defect triggered by heterozygous GBA mutations.
Parkinson Disease
Modulation of ?-Glucocerebrosidase Increases ?-Synuclein secretion and Exosome release in Mouse Models of Parkinson's Disease.
Parkinson Disease
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Parkinson Disease
Multiplexed resequencing analysis to identify rare variants in pooled DNA with barcode indexing using next-generation sequencer.
Parkinson Disease
Mutant GBA1 Expression and Synucleinopathy Risk: First Insights from Cellular and Mouse Models.
Parkinson Disease
Mutations in GBA and risk of Parkinson's disease: a meta-analysis based on 25 case-control studies.
Parkinson Disease
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.
Parkinson Disease
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
Parkinson Disease
Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.
Parkinson Disease
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Parkinson Disease
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.
Parkinson Disease
Mutations in the glucocerebrosidase gene are common in patients with Parkinson's disease from Eastern Canada.
Parkinson Disease
Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson's disease.
Parkinson Disease
Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa.
Parkinson Disease
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.
Parkinson Disease
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
Parkinson Disease
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
Parkinson Disease
Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy.
Parkinson Disease
Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease.
Parkinson Disease
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.
Parkinson Disease
No evidence for substrate accumulation in Parkinson brains with GBA mutations.
Parkinson Disease
Ocular phenotypes in a mouse model of impaired glucocerebrosidase activity.
Parkinson Disease
Oligomeric ?-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson's disease.
Parkinson Disease
Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.
Parkinson Disease
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
Parkinson Disease
Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease.
Parkinson Disease
Parkinson's disease and the heterozygous state for glucocerebrosidase mutations among Brazilians.
Parkinson Disease
Parkinson's disease I: glucocerebrosidase mutations, family history of melanoma and questionable effects of rasagiline.
Parkinson Disease
Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation.
Parkinson Disease
Parkinson's disease in patients and obligate carriers of Gaucher disease.
Parkinson Disease
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Parkinson Disease
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
Parkinson Disease
Path mediation analysis reveals GBA impacts Lewy body disease status by increasing ?-synuclein levels.
Parkinson Disease
Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease.
Parkinson Disease
Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: a Kin Cohort Study.
Parkinson Disease
Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.
Parkinson Disease
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity.
Parkinson Disease
Plasma ceramide and glucosylceramide metabolism is altered in sporadic Parkinson's disease and associated with cognitive impairment: a pilot study.
Parkinson Disease
Plasma oligomeric alpha-synuclein is associated with glucocerebrosidase activity in Gaucher disease.
Parkinson Disease
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Parkinson Disease
Prevalence of pre-diagnostic symptoms did not differ between LRRK2-related, GBA-related and idiopathic patients with Parkinson's disease.
Parkinson Disease
Prodromal Clinical Markers of Parkinson disease in Gaucher Disease Individuals.
Parkinson Disease
Progressive decline of glucocerebrosidase in aging and Parkinson's disease.
Parkinson Disease
Protein unbound pharmacokinetics of ambroxol in the blood and brains of rats and the interaction of ambroxol with Polygala tenuifolia by multiple microdialysis.
Parkinson Disease
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
Parkinson Disease
Reduced glucocerebrosidase activity in monocytes from patients with Parkinson's disease.
Parkinson Disease
Reduced glucocerebrosidase is associated with increased ?-synuclein in sporadic Parkinson's disease.
Parkinson Disease
Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers.
Parkinson Disease
Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease.
Parkinson Disease
Retinal thinning in Gaucher disease patients and carriers: results of a pilot study.
Parkinson Disease
Screening of the glucocerebrosidase (GBA) gene in South Africans of African ancestry with Parkinson's disease.
Parkinson Disease
Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.
Parkinson Disease
Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease.
Parkinson Disease
Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease.
Parkinson Disease
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.
Parkinson Disease
Structural features of membrane-bound glucocerebrosidase and ?-synuclein probed by neutron reflectometry and fluorescence spectroscopy.
Parkinson Disease
Survival and dementia in GBA-associated Parkinson Disease: The mutation matters.
Parkinson Disease
Tandem Mass Spectrometry Multiplex Analysis of Glucosylceramide and Galactosylceramide Isoforms in Brain Tissues at Different Stages of Parkinson Disease.
Parkinson Disease
Targeting glucocerebrosidase: Reduced enzymatic activity and Parkinson's disease.
Parkinson Disease
The association between lysosomal protein glucocerebrosidase and Parkinson's disease.
Parkinson Disease
The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru.
Parkinson Disease
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.
Parkinson Disease
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Parkinson Disease
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Parkinson Disease
The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.
Parkinson Disease
The interplay between Glucocerebrosidase, ?-synuclein and lipids in human models of Parkinson's disease.
Parkinson Disease
The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.
Parkinson Disease
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
Parkinson Disease
The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease.
Parkinson Disease
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
Parkinson Disease
The relationship between glucocerebrosidase mutations and Parkinson disease.
Parkinson Disease
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.
Parkinson Disease
Tool Compounds Robustly Increase Turnover of an Artificial Substrate by Glucocerebrosidase in Human Brain Lysates.
Parkinson Disease
Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.
Parkinson Disease
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Parkinson Disease
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
Parkinson Disease
Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.
Parkinson Disease
What would Dr. James parkinson think today? Mutations in beta-glucocerebrosidase and risk of Parkinson's disease.
Parkinson Disease
White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations.
Parkinson Disease
Wild-type GBA1 increases the ?-synuclein tetramer-monomer ratio, reduces lipid-rich aggregates, and attenuates motor and cognitive deficits in mice.
Parkinson Disease
[Characteristics of Parkinson's disease course in the heterozygous carriage of mutations in the glucocerebrosidase A gene].
Parkinson Disease
[Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]
Parkinson Disease
[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.
Parkinsonian Disorders
Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.
Parkinsonian Disorders
Association between Parkinson's disease and glucocerebrosidase mutations in Brazil.
Parkinsonian Disorders
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Parkinsonian Disorders
Autosomal recessive mutations in the development of Parkinson's disease.
Parkinsonian Disorders
Chaperoning glucocerebrosidase: a therapeutic strategy for both Gaucher disease and Parkinsonism.
Parkinsonian Disorders
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.
Parkinsonian Disorders
Detection of 12 new mutations in Gaucher disease Brazilian patients.
Parkinsonian Disorders
Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier.
Parkinsonian Disorders
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Parkinsonian Disorders
Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism.
Parkinsonian Disorders
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Parkinsonian Disorders
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Parkinsonian Disorders
Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Parkinsonian Disorders
Glucocerebrosidase is present in ?-synuclein inclusions in Lewy body disorders.
Parkinsonian Disorders
Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.
Parkinsonian Disorders
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.
Parkinsonian Disorders
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.
Parkinsonian Disorders
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Parkinsonian Disorders
Leukocyte glucocerebrosidase and ?-hexosaminidase activity in sporadic and genetic Parkinson disease.
Parkinsonian Disorders
Membrane-bound ?-synuclein interacts with glucocerebrosidase and inhibits enzyme activity.
Parkinsonian Disorders
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
Parkinsonian Disorders
Pro-cathepsin D, Prosaposin, and Progranulin: Lysosomal Networks in Parkinsonism.
Parkinsonian Disorders
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
Parkinsonian Disorders
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
Parkinsonian Disorders
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
Parkinsonian Disorders
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.
REM Sleep Behavior Disorder
Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder.
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.
Seizures
Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination.
Spastic Paraplegia, Hereditary
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Spastic Paraplegia, Hereditary
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.
Sphingolipidoses
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.
Sphingolipidoses
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
Sphingolipidoses
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
Sphingolipidoses
Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside.
Sphingolipidoses
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.
Sphingolipidoses
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
Sphingolipidoses
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Sphingolipidoses
Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples.
Sphingolipidoses
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease.
Sphingolipidoses
Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family.
Sphingolipidoses
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
Sphingolipidoses
Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease.
Sphingolipidoses
Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
Sphingolipidoses
The effect of N-octyl-beta-valienamine on beta-glucosidase activity in tissues of normal mice.
Sphingolipidoses
The pharmacological chaperone effect of N-octyl-beta-valienamine on human mutant acid beta-glucosidases.
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.
Synucleinopathies
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies.
Synucleinopathies
Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related Synucleopathies.
Synucleinopathies
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Synucleinopathies
CNS expression of glucocerebrosidase corrects {alpha}-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy.
Synucleinopathies
Development of targeted therapies for Parkinson disease and related synucleinopathies.
Synucleinopathies
Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies.
Synucleinopathies
Glucocerebrosidase depletion enhances cell-to-cell transmission of ?-synuclein.
Synucleinopathies
Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.
Synucleinopathies
Glucocerebrosidase modulates cognitive and motor activities in murine models of Parkinson's disease.
Synucleinopathies
Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes.
Synucleinopathies
Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.
Synucleinopathies
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Synucleinopathies
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Synucleinopathies
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.
Synucleinopathies
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
Synucleinopathies
Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha-Synuclein Profiles.
Synucleinopathies
Posterior Cortical Atrophy phenotype in a GBA N370S mutation carrier: a case report.
Synucleinopathies
Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease.
Synucleinopathies
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.
Synucleinopathies
Validation and assessment of preanalytical factors of a fluorometric in vitro assay for glucocerebrosidase activity in human cerebrospinal fluid.
Synucleinopathies
Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.
Thrombocytopenia
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Thrombocytopenia
Discrepancies between genotype and phenotype in hematology: an important frontier.
Thrombocytopenia
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease.
Thrombocytopenia
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.
Thrombocytopenia
Imiglucerase low-dose therapy for paediatric Gaucher disease--a long-term cohort study.
Thrombocytopenia
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.
Thrombocytopenia
Pregnancy after avascular necrosis of the femur complicating Gaucher's disease.
Thrombocytopenia
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
Thrombocytopenia
The Management of Gaucher Disease in Developing Countries: A Successful Experience in Southern Brazil.
Thrombocytopenia
Thromboelastography Before Epidural Placement in a Thrombocytopenic Parturient With Gaucher Disease Treated With Imiglucerase: A Case Report.
Thrombocytopenia
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.
Thrombocytopenia
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
Thrombocytopenia
[A retrospective study on enzyme replacement therapy in patients with Gaucher disease]
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.
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]
Virus Diseases
Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis.
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