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...

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Detalles Bibliográficos
Autores principales: Atang, Alexandra E., Keller, Amanda R., Denha, Sarah A., Avery, Adam W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
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

Internet

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

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