Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis
Glucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the sev...
| Huvudupphovsmän: | , , , , , , , , , , |
|---|---|
| Materialtyp: | Journal article |
| Språk: | English |
| Publicerad: |
Wiley
2024
|