Article
The role of glucocerebrosidase in Parkinson disease pathogenesis.
The FEBS journal - 1 Oct 2018
Gegg Matthew E, Schapira Anthony H V
Abstract excerpt
GBA encodes the lysosomal enzyme glucocerebrosidase (GCase), an enzyme involved in sphingolipid metabolism. Mutations in the GBA gene are numerically the most important risk factor for developing Parkinson disease (PD) accounting for at least 5% of all PD cases. Furthermore, loss of GCase activity is found in sporadic PD brains. Lysosomal dysfunction is thought to play a principal role in PD pathogenesis and in...
Topics
- Animals
- Gene Expression Regulation, Enzymologic
- Glucosylceramidase
- Humans
- Inflammation
- Mitochondria
- Mutation
- Parkinson Disease