Glucocerebrosidase Involvement in Parkinson Disease and Other Synucleinopathies
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چکیده
منابع مشابه
Glucocerebrosidase Involvement in Parkinson Disease and Other Synucleinopathies
Mutations in both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide cause Gaucher disease. However, multiple independent studies have also reported an association between GBA mutations and Parkinsonism with an increased frequency of heterozygous GBA mutations in vario...
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Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD. GBA mutations are now known to be the single largest risk factor for development of idiopathic P...
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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...
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In PNAS, Sardi et al. describe that viral vector-mediated increase in glucocerebrosidase enzyme (GCase) activity can reverse synuclein-related pathological features and improve behavioral function in the D409V mouse model of Gaucher disease (GD) (1). This important study has several implications for our understanding of the pathogenesis of Parkinson disease (PD) and contributes toward the ratio...
متن کاملGlucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase). Recently, mutations in the glucocerebrosidase gene (GBA) have been associated with Parkinson's disease (PD) and GBA mutations are now considered the most important genetic vulnerability factor for PD. In this study, we have investigated (i) in vivo wh...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2012
ISSN: 1664-2295
DOI: 10.3389/fneur.2012.00065