Article
GBA Variants and Parkinson Disease: Mechanisms and Treatments.
Cells - 8 Apr 2022
Smith Laura, Schapira Anthony H V
Abstract excerpt
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Approximately 5-15% of PD patients have mutations in the GBA gene, making it numerically the most important genetic risk factor for Parkinson disease (PD). Clinically, GBA-associated PD is identical to sporadic PD, aside from the earlier age at onset (AAO), more frequent cognitive impairment...
Topics
- Endoplasmic Reticulum
- Glucosylceramidase
- Humans
- Lysosomes
- Mutation
- Parkinson Disease
- alpha-Synuclein