Results 191 to 200 of about 9,202 (225)
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Glucocerebrosidase dysfunction in neurodegenerative disease
Essays in Biochemistry, 2021Abstract Parkinson's disease (PD) and related neurodegenerative disorders, termed the synucleinopathies, are characterized pathologically by the accumulation of protein aggregates containing α-synuclein (aSyn), resulting in progressive neuronal loss.
Sarah M. Brooker, Dimitri Krainc
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Glucocerebrosidase mutations in a Serbian Parkinson's disease population
European Journal of Neurology, 2013 peer reviewedBACKGROUND AND PURPOSE: To screen for glucocerebrosidase (GBA) mutations in a Serbian Parkinson's disease (PD) population. METHODS: Glucocerebrosidase exons 8-11 harbouring the most common mutations were sequenced in 360 patients with PD and
Kishore R Kumar +2 more
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Glucocerebrosidase (Gaucher disease)
Human Mutation, 1996Gaucher disease is the most common glycolipid storage disorder, characterized by storage of the glycolipid, glucocerebroside in the liver, spleen, and marrow. The most prevalent form of Gaucher disease is designated type I (MIM 230800). Patients with type I disease may have hepatomegaly, splenomegaly, bone lesions, and less commonly, lung disease, but ...
E, Beutler, T, Gelbart
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Blood Cells, Molecules, and Diseases, 2005
Glucocerebrosidase is a lysosomal enzyme that hydrolyses the beta-glycosidic linkage of glucocerebroside, a ubiquitous sphingolipid present in the plasma membrane of mammalian cells. Deleterious mutations in the glucocerebrosidase gene result in Gaucher disease, the most prevalent lysosomal storage disease. Humans have one glucocerebrosidase functional
Julie R, Wafaei, Francis Y M, Choy
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Glucocerebrosidase is a lysosomal enzyme that hydrolyses the beta-glycosidic linkage of glucocerebroside, a ubiquitous sphingolipid present in the plasma membrane of mammalian cells. Deleterious mutations in the glucocerebrosidase gene result in Gaucher disease, the most prevalent lysosomal storage disease. Humans have one glucocerebrosidase functional
Julie R, Wafaei, Francis Y M, Choy
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Brain Glucocerebrosidase in Gaucher's Disease
Archives of Neurology, 1982Using glucocerebroside labeled with carbon 14 as the substrate, we determined that homogenates of brain tissue from both neuropathic and nonneuropathic cases of Gaucher's disease were profoundly deficient (more than 85%) in glucocerebrosidase activity.
L B, Daniels +4 more
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Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1993 In addition to the lysosomal glucocerebrosidase, a distinct beta-glucosidase that is also active towards glucosylceramide could be demonstrated in various human tissues and cell types.
Anneke Strijland +2 more
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Parkinsonism, dementia and glucocerebrosidase mutations
Journal of Neurology, 2013Objectives: Previous associations between mitochondrial DNA (mtDNA) and idiopathic Parkinson disease (PD) have been inconsistent and contradictory. Our aim was to resolve these inconsistencies and determine whether mtDNA has a significant role in the risk of developing PD.
Kathryn, Peall, Neil P, Robertson
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Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate [PDF]
Synapse, 2017 Mutations in the glucocerebrosidase 1 (GBA1) gene are related to both Parkinson disease (PD) and Gaucher disease (GD). In both cases, the condition is associated with deficiency of glucocerebrosidase (GCase), the enzyme encoded by GBA1.
Anna Migdalska-Richards +2 more
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The neuroinflammatory role of glucocerebrosidase in Parkinson's disease
Neuropharmacology, 2022The lysosomal enzyme glucocerebrosidase (GCase), encoded by the GBA1 gene, is a membrane-associated protein catalyzing the cleavage of glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph). Homologous GBA1 mutations cause Gaucher disease (GD) and heterologous mutations cause Parkinson's disease (PD).
Ru-Xue Bo +4 more
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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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