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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Hauptverfasser:	Alexandra E. Atang, Amanda R. Keller, Sarah A. Denha, Adam W. Avery
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2023-08-01
Schriftenreihe:	Cells
Schlagworte:	spectrin actin spinocerebellar ataxia SCA5
Online-Zugang:	https://www.mdpi.com/2073-4409/12/16/2100
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