Article
Novel drug discovery platform for spinocerebellar ataxia, using fluorescence technology targeting β-III-spectrin.
The Journal of biological chemistry - 1 Jan 2000
Rebbeck Robyn T, Andrick Anna K, Denha Sarah A, Svensson Bengt, Guhathakurta Piyali, Thomas David D, Hays Thomas S, Avery Adam W
Abstract excerpt
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. Here, we...
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