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 <i>SPTBN2</i> 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 increase...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
MDPI AG
2023-08-01
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| Serie: | Cells |
| Soggetti: | |
| Accesso online: | https://www.mdpi.com/2073-4409/12/16/2100 |
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