| First Author | Migdalska-Richards A | Year | 2020 |
| Journal | PLoS One | Volume | 15 |
| Issue | 8 | Pages | e0238075 |
| PubMed ID | 32833982 | Mgi Jnum | J:293947 |
| Mgi Id | MGI:6452395 | Doi | 10.1371/journal.pone.0238075 |
| Citation | Migdalska-Richards A, et al. (2020) L444P Gba1 mutation increases formation and spread of alpha-synuclein deposits in mice injected with mouse alpha-synuclein pre-formed fibrils. PLoS One 15(8):e0238075 |
| abstractText | Parkinson disease is the most common neurodegenerative movement disorder, estimated to affect one in twenty-five individuals over the age of 80. Mutations in glucocerebrosidase 1 (GBA1) represent the most common genetic risk factor for Parkinson disease. The link between GBA1 mutations and alpha-synuclein accumulation, a hallmark of Parkinson disease, is not fully understood. Following our recent finding that Gba1 mutations lead to increased alpha-synuclein accumulation in mice, we have studied the effects of a single injection of mouse alpha-synuclein pre-formed fibrils into the striatum of Gba1 mice that carry a L444P knock-in mutation. We found significantly greater formation and spread of alpha-synuclein inclusions in Gba1-transgenic mice compared to wild-type controls. This indicates that the Gba1 L444P mutation accelerates alpha-synuclein pathology and spread. |
