Results 141 to 150 of about 7,167 (179)

Glucocerebrosidase recombinant allele: Molecular evolution of the glucocerebrosidase gene and pseudogene in primates

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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Brain Glucocerebrosidase in Gaucher's Disease

Archives of Neurology, 1982
Using 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, P J, Coyle, R H, Glew, N S, Radin, R S, Labow   +4 more
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Parkinsonism, dementia and glucocerebrosidase mutations

Journal of Neurology, 2013
Objectives: 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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The neuroinflammatory role of glucocerebrosidase in Parkinson's disease

Neuropharmacology, 2022
The 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, Yan-Yan Li, Tian-Tian Zhou, Nai-Hong Chen, Yu-He Yuan   +4 more
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Glucocerebrosidase and parkinsonism: lessons to learn

Journal of Neurology, 2016
Both 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, Nikola, Kresojević, Vladimir S, Kostić   +2 more
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Molecular Properties of Lysosomal Glucocerebrosidase

1988
In 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., Aerts, J. M. F. G., van Leeuwen, M., Petersen, E. M., Goldblatt, J., Tager, J. M., Barranger, J. A., Schram, A. W.   +7 more
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Glucocerebrosidase Inhibitors For The Treatment of Gaucher Disease

Future Medicinal Chemistry, 2013
Gaucher 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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Mammalian Glucocerebrosidase: Implications for Gaucher’s Disease

1989
More 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, A, Basu, K L, LaMarco, E M, Prence   +3 more
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Glucocerebrosidase

Inpharma Weekly, 1991
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Glucocerebrosidase

1998
Tak W. Mak, Josef Penninger, John Roder, Janet Rossant, Mary Saunders   +4 more
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