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Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin
Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caused by mutations in the SPTBN2 gene encoding the cytoskeletal protein β-III-spectrin. Previously, we demonstrated that a L253P missense mutation, localizing to the β-III-spectrin actin-binding domain (ABD), causes increased actin...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980045/ https://www.ncbi.nlm.nih.gov/pubmed/36865188 http://dx.doi.org/10.1101/2023.02.20.529285 |