نتایج جستجو برای: glucocerebrosidase

تعداد نتایج: 825  

2016
Anna Migdalska‐Richards Liam Daly Erwan Bezard Anthony H. V. Schapira

OBJECTIVE Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase. Both homozygous and heterozygous glucocerebrosidase 1 mutations confer an increased risk for developing Parkinson disease. Current estimates indicate that 10 to 25% of Parkinson patients carry glucocerebrosidase 1 mutations. Ambroxol is a small ...

A Yousefi , F Binesh , M Ordooei , MA Bagherinasab ,

Background Gaucher’s Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher’s Disease .G.D is rare in Yazd. Case reports We reported a patient that presented...

2016
Edward Rockenstein Jennifer Clarke Catherine Viel Nicholas Panarello Christopher M. Treleaven Changyoun Kim Brian Spencer Anthony Adame Hyejung Park James C. Dodge Seng H. Cheng Lamya S. Shihabuddin E. Masliah S. Pablo Sardi

Mutations in GBA1, the gene encoding glucocerebrosidase, are associated with an enhanced risk of developing synucleinopathies such as Parkinson's disease (PD) and dementia with Lewy bodies. A higher prevalence and increased severity of motor and non-motor symptoms is observed in PD patients harboring mutant GBA1 alleles, suggesting a link between the gene or gene product and disease development...

Journal: :The Biochemical journal 1990
J M Aerts W E Donker-Koopman S Brul S Van Weely M C Sa Miranda J A Barranger J M Tager A W Schram

In Gaucher disease (glucosylceramide lipidosis), deficiency of glucocerebrosidase causes pathological storage of glucosylceramide, particularly in the spleen. A comparative biochemical and immunological analysis has therefore been made of glucocerebrosidase in spleens from normal subjects (n = 4) and from Gaucher disease patients with non-neuronopathic (n = 5) and neuronopathic (n = 5) phenotyp...

Journal: :Cell 2007
David Reczek Michael Schwake Jenny Schröder Heather Hughes Judith Blanz Xiaoying Jin William Brondyk Scott Van Patten Tim Edmunds Paul Saftig

beta-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor. Affinity-chromatography experiments revealed that the lysosomal integral membrane protein LIMP-2 is a specific binding partner of beta-glucocerebrosidase. This interaction involves a coiled-coil domain within the lumenal domain. beta-glucocerebrosidase...

2012
Alisdair McNeill Raquel Duran Derralynn A Hughes Atul Mehta Anthony H V Schapira

Type I Gaucher disease (GD), the most common lysosomal storage disorder, is caused by recessive glucocerebrosidase mutations. Both patients with Type I GD and heterozygous glucocerebrosidase mutation carriers have increased Parkinson’s disease (PD) risk. Non-motor symptoms (NMS) are more frequent in PD with heterozygous glucocerebrosidase mutations (PD-GBA). We used the non-motor symptoms scale...

Journal: :Journal of medical genetics 2004
O Goker-Alpan R Schiffmann M E LaMarca R L Nussbaum A McInerney-Leo E Sidransky

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed c...

Journal: :Brain : a journal of neurology 2014
Marina Siebert Ellen Sidransky Wendy Westbroek

The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively inherited deficiency of glucocerebrosidase...

Journal: :The FEBS journal 2006
Hui-Hwa Chang Naoki Asano Satoshi Ishii Yoshitaka Ichikawa Jian-Qiang Fan

Gaucher 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 hepatosplenomegaly, anemia and skeletal lesions in type I disease, and neurologic manifestations in types II and III disease. We report herein the identificat...

Journal: :The Journal of biological chemistry 1984
A Basu R H Glew L B Daniels L S Clark

Glucocerebrosidase from normal human spleen, and spleen from cases of neurologic (types 2 and 3) and nonneurologic (type 1) Gaucher's disease, was delipidated and inactivated by extraction from membranes with sodium cholate and ice-cold 1-butanol. Control glucocerebrosidase was stimulated markedly by large quantities (20-30 micrograms/assay) of phosphatidylserine (PS), or by a combination of sm...

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