GeneticsNeurobiology of DiseasePeer-reviewed
Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Cecilia Mancini, Eriola Hoxha, Luisa Iommarini…·Filippo Tempia
This study creates a new mouse model with a patient-derived SCA28 mutation and shows it leads to late-onset ataxia and mitochondrial dysfunction.
32 citations