Open access
Sep 2026
PolyQ-expanded ataxin-3 is associated with mitochondrial alterations in Machado–Joseph disease
ABSTRACT Spinocerebellar ataxia type 3, also known as Machado–Joseph disease (MJD), is a fatal neurodegenerative disease caused by an expanded CAG repeat in ataxin-3 (ATXN3). Here, we investigated mitochondrial alterations across complementary MJD models, including transgenic zebrafish, CMVMJD135 mice and primary neuro...
Ignacio Simó, Katherine J. Robinson, Julia Y. Kam et al.
· Disease Models & Mechanisms · 1 citation