Article
Mitochondrial dysfunction and mitophagy defects in LRRK2-R1441C Parkinson's disease models.
Human molecular genetics - 5 Sept 2023
Williamson Matthew G, Madureira Marta, McGuinness William, Heon-Roberts Rachel, Mock Elliot D, Naidoo Kalina, Cramb Kaitlyn M L, Caiazza Maria-Claudia, Malpartida Ana B, Lavelle Martha, Savory Katrina, Humble Stewart W, Patterson Ryan, Davis John B, Connor-Robson Natalie, Ryan Brent J, Wade-Martins Richard
Abstract excerpt
Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene have been identified as one of the most common genetic causes of Parkinson's disease (PD). The LRRK2 PD-associated mutations LRRK2G2019S and LRRK2R1441C, located in the kinase domain and in the ROC-COR domain, respectively, have been demonstrated to impair mitochondrial function. Here, we sought to further our understanding of mitochondrial health and...
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