Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation

α-Actinin-2 (ACTN2) is the only muscle isoform of α-actinin expressed in cardiac muscle. Mutations in this protein have been implicated in mild to moderate forms of hypertrophic cardiomyopathy (HCM). We have investigated the effects of two mutations identified from HCM patients, A119T and G111V, on...

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Detalles Bibliográficos
Autores principales: Haywood, Natalie J., Wolny, Marcin, Rogers, Brendan, Trinh, Chi H., Shuping, Yu, Edwards, Thomas A., Peckham, Michelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2016
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980809/
https://www.ncbi.nlm.nih.gov/pubmed/27287556
http://dx.doi.org/10.1042/BCJ20160421

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980809/
https://www.ncbi.nlm.nih.gov/pubmed/27287556
http://dx.doi.org/10.1042/BCJ20160421

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