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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Biochem J
Hauptverfasser: Haywood, Natalie J., Wolny, Marcin, Rogers, Brendan, Trinh, Chi H., Shuping, Yu, Edwards, Thomas A., Peckham, Michelle
Format: Artigo
Sprache:Inglês
Veröffentlicht: Portland Press Ltd. 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4980809/
https://ncbi.nlm.nih.gov/pubmed/27287556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20160421
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