Article
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle.
Progress in neurobiology - 1 Feb 2015
Sardi S Pablo, Cheng Seng H, Shihabuddin Lamya S
Abstract excerpt
Gaucher disease, the most common lysosomal storage disease, is caused by a recessively inherited deficiency in glucocerebrosidase and subsequent accumulation of toxic lipid substrates. Heterozygous mutations in the lysosomal glucocerebrosidase gene (GBA1) have recently been recognized as the highest genetic risk factor for the development of α-synuclein aggregation disorders ("synucleinopathies"), including...
Topics
- Gaucher Disease
- Glucosylceramidase
- Humans
- Mutation
- Neurodegenerative Diseases
- alpha-Synuclein