The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
parkin V380L 变体是 Machado-Joseph 病的遗传修饰因子,对线粒体自噬有影响
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-024-02762-6
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,