GeneticsEMBO Molecular MedicinePeer-reviewed
CCG*CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity
Barbara A Perez, Hannah K Shorrock, Mónica Báñez-Coronel…·Laura P.W. Ranum
This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.
37 citations