The Parkin V380L Variant is a Genetic Modifier of Machado–Joseph Disease with Impact on Mitophagy
Jonasz J. Weber, Leah Czisch,Priscila Pereira Sena,Florian Fath,Chrisovalantou Huridou, Natasa Schwarz, Rana D. Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker,Gunnar Blumenstock,Sandra Martins,Jorge Sequeiros,Guy A. Rouleau,Laura Bannach Jardim,Maria-Luiza Saraiva-Pereira,Marcondes C. França,Carlos R. Gordon,Roy Zaltzman,Mario R. Cornejo-Olivas,Bart P. C. van de Warrenburg,Alexandra Durr,Alexis Brice,Peter Bauer,Thomas Klockgether,Ludger Schöls,Olaf Riess,Thorsten Schmidt Acta Neuropathologica（2024）
Key words
PRKN,Spinocerebellar ataxia type 3,SCA3,Polyglutamine disease,SNP,Aggregation
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