Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 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: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453832/
https://www.ncbi.nlm.nih.gov/pubmed/37626910
http://dx.doi.org/10.3390/cells12162100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453832/
https://www.ncbi.nlm.nih.gov/pubmed/37626910
http://dx.doi.org/10.3390/cells12162100

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