Associated Papers
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.
Arévalo NB et al.
Frontiers in Molecular Neuroscience, 2022
Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease.
Ivanova MM et al.
Plos One, 2021
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
Sun Y et al.
Plos One, 2013
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.
Goker-Alpan O et al.
Acta Neuropathologica, 2010
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.
Sun Y et al.
Human Molecular Genetics, 2010
Initiation of enzyme replacement therapy for an adult patient with asymptomatic type 1 Gaucher's disease.
Tanaka N et al.
Internal Medicine (tokyo, Japan), 2001
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
Choy FY et al.
American Journal of Medical Genetics, 1999
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
Horowitz M et al.
Human Mutation, 1998
Expression of mutated glucocerebrosidase alleles in human cells.
Pasmanik-Chor M et al.
Human Molecular Genetics, 1997
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
Ida H et al.
Journal of Inherited Metabolic Disease, 1997
A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
Seri M et al.
Clinical Genetics, 1995
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.
Ida H et al.
Human Genetics, 1995
Genotype-phenotype pitfalls in Gaucher disease.
Strasberg PM et al.
Journal of Clinical Laboratory Analysis, 1994
Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.
Horowitz M et al.
American Journal of Human Genetics, 1993
The enigma of the E326K mutation in acid β-glucocerebrosidase.
Horowitz M et al.
Molecular Genetics and Metabolism, 0
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