Glucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease

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Glucocerebrosidase 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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Glucocerebrosidase 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, ...

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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...

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Mitochondrial dysfunction associated with glucocerebrosidase deficiency

The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder. Furthermore, homozygous and heterozygous GBA mutations are numerically the greatest genetic risk factor for developing Parkinson's disease (PD), the second most common neurodegenerative disorder. The loss of GCase activity results ...

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Glucocerebrosidase 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...

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ژورنال

عنوان ژورنال: Journal of the Neurological Sciences

سال: 2015

ISSN: 0022-510X

DOI: 10.1016/j.jns.2015.06.030