Glucocerebrosidase deficits in sporadic Parkinson disease
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase Mutations in Parkinson Disease.
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...
متن کاملGlucocerebrosidase in the pathogenesis and treatment of Parkinson disease.
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...
متن کاملGlucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains
OBJECTIVE Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains. METHODS GCase activity was measured using a fluorescent assay in cerebellum, frontal cortex, putamen, amygdala, ...
متن کاملGlucocerebrosidase 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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ژورنال
عنوان ژورنال: Autophagy
سال: 2014
ISSN: 1554-8627,1554-8635
DOI: 10.4161/auto.29074