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Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients [PDF]
FEBS Journal, 2006 application/pdfGaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendothelial system, leads to ...
Satoshi Ishii +2 more
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Glucocerebrosidase and parkinsonism: lessons to learn
Journal of Neurology, 2016Both homo- (causing autosomal-recessive Gaucher's disease; GD) and heterozygous mutations in the glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD), and represent the most robust known genetic susceptibility factors identified in PD.
Ivanka, Marković +2 more
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Glucocerebrosidase Inhibitors For The Treatment of Gaucher Disease
Future Medicinal Chemistry, 2013Gaucher disease is a progressive lysosomal storage disorder caused by a deficiency in the activity of β-glucocerebrosidase and is characterized by the accumulation of the glycosphingolipid glucosylceramide in the lysosomes of macrophages that leads to dysfunction in multiple organ system.
Trapero, Ana, Llebaria, Amadeu
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The Glucocerebrosidase D409H Mutation in Gaucher Disease
Biochemical and Molecular Medicine, 1996Gaucher disease, resulting from the decreased activity of the lysosomal enzyme glucocerebrosidase, is the most prevalent sphingolipid storage disease. Due to considerable heterogeneity of phenotypic expression, it has been subdivided into the nonneurological type 1 disease, and types 2 and 3, the neurological types.
M, Pasmanik-Chor +6 more
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Analysis of the glucocerebrosidase gene in Parkinson's disease
Movement Disorders, 2005AbstractParkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene ...
Sato, Christine +9 more
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