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Glucocerebrosidase mutations in subjects with parkinsonism [PDF]
Molecular Genetics and Metabolism, 2004 Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease.
Ellen Sidransky, Özlem Göker-Alpan
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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
Nikola Kresojevic +2 more
exaly +2 more sources
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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 (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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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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Molecular Properties of Lysosomal Glucocerebrosidase
1988In Gaucher disease the membrane-associated lysosomal enzyme glucocerebrosidase is deficient (1). Three clinical phenotypes of Gaucher disease are discriminated: type 1, the adult non-neuronopathic form, type 2, the infantile neuronopathic form and type 3, the juvenile neuronopathic form (1).
van Weely, S. +7 more
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Glucocerebrosidase mutations and the pathogenesis of Parkinson disease [PDF]
Annals of Medicine, 2013 Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. An association between PD and Gaucher disease (GD) derived from the observation that GD patients and their heterozygous carrier relatives were at increased risk of PD.
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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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