Article
Enhancing the Activity of Glucocerebrosidase as a Treatment for Parkinson Disease.
CNS drugs - 1 Sept 2020
Menozzi Elisa, Schapira Anthony H V
Abstract excerpt
Mutations in the glucocerebrosidase (GBA1) gene are the most common genetic risk factor for Parkinson disease (PD). Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disorder Gaucher disease (GD), characterized by deficient activity of the glucocerebrosidase enzyme (GCase). Both individuals with GD type I and heterozygous carriers of pathogenic variants of GBA1 have an increased risk...
Topics
- Animals
- Disease Progression
- Endoplasmic Reticulum
- Genetic Predisposition to Disease
- Glucosylceramidase
- Humans
- Mutation
- Parkinson Disease
- Protein Folding
- Risk Factors
- alpha-Synuclein