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Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2

The ACTN2 gene encodes α-actinin 2, located in the Z-disc of the sarcomeres in striated muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of unknown significance (p.A868T) on cardiac muscle structure and function. Left ventricular free wall samples were obtaine...

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Detalles Bibliográficos
Autores principales: Rodriguez Garcia, Michelle, Schmeckpeper, Jeffrey, Landim-Vieira, Maicon, Coscarella, Isabella Leite, Fang, Xuan, Ma, Weikang, Spran, Payton A., Yuan, Shengyao, Qi, Lin, Kahmini, Aida Rahimi, Shoemaker, M. Benjamin, Atkinson, James B., Kekenes-Huskey, Peter M., Irving, Thomas C., Chase, Prescott Bryant, Knollmann, Björn C., Pinto, Jose Renato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572656/
https://www.ncbi.nlm.nih.gov/pubmed/37834023
http://dx.doi.org/10.3390/ijms241914572