Article
Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments.
Neurobiology of disease - 1 May 2022
Gegg Matthew E, Menozzi Elisa, Schapira Anthony H V
Abstract excerpt
Dysfunction of the endolysosomal system is implicated in the pathogenesis of both sporadic and familial Parkinson disease (PD). Variants in genes encoding lysosomal proteins have been estimated to be associated with more than half of PD cases. The most common genetic risk factor for PD are variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid...
Topics
- Glucosylceramidase
- Heterozygote
- Humans
- Lysosomes
- Mutation
- Parkinson Disease
- alpha-Synuclein