Resistance of Acta2(R149C/+) mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex

Pathogenic variants of the gene for smooth muscle α-actin (ACTA2), which encodes smooth muscle (SM) α-actin, predispose to heritable thoracic aortic disease. The ACTA2 variant p.Arg149Cys (R149C) is the most common alteration; however, only 60% of carriers have a dissection or undergo repair of an a...

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Detalles Bibliográficos
Autores principales: Chen, Jiyuan, Kaw, Kaveeta, Lu, Hailong, Fagnant, Patricia M., Chattopadhyay, Abhijnan, Duan, Xue Yan, Zhou, Zhen, Ma, Shuangtao, Liu, Zhenan, Huang, Jian, Kamm, Kristine, Stull, James T., Kwartler, Callie S., Trybus, Kathleen M., Milewicz, Dianna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633019/
https://www.ncbi.nlm.nih.gov/pubmed/34600884
http://dx.doi.org/10.1016/j.jbc.2021.101228

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