Thoracic Aortic Aneurysm (TAAD)-causing Mutation in Actin Affects Formin Regulation of Polymerization

More than 30 mutations in ACTA2, which encodes α-smooth muscle actin, have been identified to cause autosomal dominant thoracic aortic aneurysm and dissection. The mutation R256H is of particular interest because it also causes patent ductus arteriosus and moyamoya disease. R256H is one of the more...

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Detalhes bibliográficos
Main Authors: Malloy, Lindsey E., Wen, Kuo-Kuang, Pierick, Alyson R., Wedemeyer, Elesa W., Bergeron, Sarah E., Vanderpool, Nicole D., McKane, Melissa, Rubenstein, Peter A., Bartlett, Heather L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Protein Structure and Folding
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436569/
https://ncbi.nlm.nih.gov/pubmed/22753406
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.371914
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