Article
Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.
Translational neurodegeneration - 12 Sept 2024
Zhang Xuxiang, Wu Heng, Tang Beisha, Guo Jifeng
Abstract excerpt
Parkinson's disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk. Mutations in the GBA1 gene lead to reduced activity of the coded enzyme, glucocerebrosidase, which mediates the development of PD by affecting lipid metabolism (especially sphingolipids), lysosomal...
Topics
- Humans
- Glucosylceramidase
- Parkinson Disease
- Biomarkers
- Mutation
