Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sarah A. Denha"'
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract Recent structural studies of β-III-spectrin and related cytoskeletal proteins revealed N-terminal sequences that directly bind actin. These sequences are variable in structure, and immediately precede a conserved actin-binding domain compos
Externí odkaz:
https://doaj.org/article/46b4e8567b9142cfb5b041cfd820729c
Publikováno v:
Cells, Vol 12, Iss 16, p 2100 (2023)
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-spectri
Externí odkaz:
https://doaj.org/article/5891b7430ca7487faf1e6adcb3306ebe
Autor:
Piyali Guhathakurta, Robyn T. Rebbeck, Sarah A. Denha, Amanda R. Keller, Anna L. Carter, Alexandra E. Atang, Bengt Svensson, David D. Thomas, Thomas S. Hays, Adam W. Avery
Publikováno v:
Journal of Biological Chemistry. 299:102956
Autor:
Robyn T. Rebbeck, Adam W. Avery, David D. Thomas, Anna K. Andrick, Bengt Svensson, Piyali Guhathakurta, Sarah A. Denha, Thomas S. Hays
Publikováno v:
The Journal of Biological Chemistry
Numerous diseases are linked to mutations in the actin-binding domains (ABDs) of conserved cytoskeletal proteins, including β-III-spectrin, α-actinin, filamin, and dystrophin. A β-III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia