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A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding

Spinocerebellar ataxia type 5 (SCA5) is a human neurodegenerative disease that stems from mutations in the SPTBN2 gene encoding the protein β-III-spectrin. Here we investigated the molecular consequence of a SCA5 missense mutation that results in a L253P substitution in the actin-binding domain (ABD...

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Detalles Bibliográficos
Autores principales: Avery, Adam W., Crain, Jonathan, Thomas, David D., Hays, Thomas S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756369/
https://www.ncbi.nlm.nih.gov/pubmed/26883385
http://dx.doi.org/10.1038/srep21375