Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
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The clinical management of Type 2 Gaucher diseaseAdvancing Biological Understanding and Therapeutics Discovery with Small-Molecule ProbesMitochondrial dysfunction associated with glucocerebrosidase deficiencySystemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher diseaseA Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsNeonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.Selective extraction and effective separation of galactosylsphingosine (psychosine) and glucosylsphingosine from other glycosphingolipids in pathological tissue samplesGaucher disease: insights from a rare Mendelian disorder.Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs.Hepatobiliary quiz-10 (2014)Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Gaucher disease: pathological mechanisms and modern management.Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher diseaseSubstrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammationLoss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation.Secondary lipid accumulation in lysosomal disease.Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.The cognitive profile of type 1 Gaucher disease patients.Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher diseaseElevated globotriaosylsphingosine is a hallmark of Fabry disease.Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patientsElevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic responseTissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.Direct quantitation of psychosine from alkaline-treated lipid extracts with a semi-synthetic internal standard.A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by RapamycinAutosomal recessive mutations in the development of Parkinson's disease.Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.Ceramide function in the brain: when a slight tilt is enough.Glucocerebrosidase, a new player changing the old rules in Lewy body diseases.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease.Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.
P2860
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P2860
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@en
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@nl
type
label
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@en
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@nl
prefLabel
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@en
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@nl
P2093
P1476
Glucosylsphingosine accumulati ...... n with phenotype and genotype.
@en
P2093
Brian M Martin
Eduard Orvisky
Edward I Ginns
Ellen Sidransky
Joseph K Park
Mary E LaMarca
Nahid Tayebi
P304
P356
10.1016/S1096-7192(02)00117-8
P577
2002-08-01T00:00:00Z