Allele-specific Effects of Thoracic Aortic Aneurysm and Dissection α-Smooth Muscle Actin Mutations on Actin Function

Twenty-two missense mutations in ACTA2, which encodes α-smooth muscle actin, have been identified to cause thoracic aortic aneurysm and dissection. Limited access to diseased tissue, the presence of multiple unresolvable actin isoforms in the cell, and lack of an animal model have prevented analysis...

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Detalhes bibliográficos
Main Authors: Bergeron, Sarah E., Wedemeyer, Elesa W., Lee, Rose, Wen, Kuo-Kuang, McKane, Melissa, Pierick, Alyson R., Berger, Anthony P., Rubenstein, Peter A., Bartlett, Heather L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2011
Assuntos:
Protein Structure and Folding
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3064192/
https://ncbi.nlm.nih.gov/pubmed/21288906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.203174
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