J Biol Chem 2020 Dec 24;296:100215. Epub 2020 Dec 24.
Department of Chemistry, Oakland University, Rochester, Michigan, USA; Department of Genetics, Cellular Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA. Electronic address:
Numerous diseases are linked to mutations in the actin-binding domains (ABDs) of conserved cytoskeletal proteins, including β-III-spectrin, α-actinin, filamin, and dystrophin. A β-III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia type 5 (SCA5) causes a dramatic increase in actin binding. Reducing actin binding of L253P is thus a potential therapeutic approach for SCA5 pathogenesis. Read More