Results 231 to 240 of about 11,713 (255)

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
openaire   +2 more sources

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
openaire   +2 more sources

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study

Movement Disorders, 2020
Homozygous glucocerebrosidase mutations cause Gaucher disease, whereas heterozygous mutations are the most important genetic risk factor for Parkinson's disease (PD). The penetrance of heterozygous glucocerebrosidase mutations for PD is variable (10%–30%)
R. Balestrino, S. Tunesi, S. Tesei, L. Lopiano, A. Zecchinelli, S. Goldwurm   +5 more
semanticscholar   +1 more source

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
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Parkinson's Disease: Glucocerebrosidase 1 Mutation Severity Is Associated with CSF Alpha‐Synuclein Profiles

Movement Disorders, 2020
Mutations in the gene glucocerebrosidase (GBA1) are specifically associated with alpha‐synucleinopathies, namely, Parkinson's disease (PD) and dementia with Lewy bodies.
S. Lerche, I. Wurster, B. Roeben, M. Zimmermann, Benjamin Riebenbauer, Christian Deuschle, A. Hauser, C. Schulte, D. Berg, W. Maetzler, Katharina Waniek, I. Lachmann, I. Liepelt-Scarfone, T. Gasser, K. Brockmann   +14 more
semanticscholar   +1 more source

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
openaire   +2 more sources

Ambroxol increases glucocerebrosidase (GCase) activity and restores GCase translocation in primary patient-derived macrophages in Gaucher disease and Parkinsonism.

Parkinsonism & Related Disorders, 2021
A. Kopytova, G. Rychkov, M. Nikolaev, G. Baydakova, A. Cheblokov, K. Senkevich, D. Bogdanova, O. Bolshakova, I. Miliukhina, V. Bezrukikh, G. Salogub, S. Sarantseva, T. Usenko, E. Zakharova, A. Emelyanov, S. Pchelina   +15 more
semanticscholar   +1 more source

Faculty Opinions recommendation of Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2020
S. Schneider
semanticscholar   +1 more source