Results 191 to 200 of about 14,130 (212)
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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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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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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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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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Mammalian Glucocerebrosidase: Implications for Gaucher’s Disease
1989More than 20 years ago Brady, Kanfer, and Shapiro and coworkers (13) and Patrick (49) identified the deficiency of glucocerebroside: β-glucosidase (glucocerebrosidase) as the cause of Gaucher’s disease, the first sphingolipidosis for which the biochemical-enzymatic basis was established.
R H, Glew +3 more
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