Article
Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues.
Pharmacology & therapeutics - 1 Jun 2023
Menozzi Elisa, Toffoli Marco, Schapira Anthony H V
Abstract excerpt
The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder characterised by loss of GCase activity and aberrant intracellular accumulation of GCase substrates. Carriers of GBA1 variants have an increased risk of developing Parkinson disease (PD), with odds ratio ranging...
Topics
- Humans
- Parkinson Disease
- alpha-Synuclein
- Glucosylceramidase
- Brain
- Mutation