Article
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Molecular genetics and metabolism - 1 Apr 2011
Xu Y H, Sun Y, Ran H, Quinn B, Witte D, Grabowski G A
Abstract excerpt
Gaucher disease, a prevalent lysosomal storage disease, is caused by insufficient activity of acid β-glucosidase (GCase) and resultant glucosylceramide accumulation. Recently in Parkinson disease (PD) patients, heterozygous mutations in GCase have been associated with earlier onset and more progressive PD. To understand the pathogenic relationships between GCase variants and Parkinsonism, α-synuclein and...
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