BiochemistrybioRxivPreprint
Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin
A. E. Atang, A. R. Keller, S. A. Denha, A. W. Avery
This study shows that multiple SCA5 mutations increase actin-binding affinity, with some mutations causing earlier symptom onset.
DOI 10.1101/2023.02.20.529285