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Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin

Point mutations in vascular smooth muscle α-actin (SM α-actin), encoded by the gene ACTA2, are the most prevalent cause of familial thoracic aortic aneurysms and dissections (TAAD). Here, we provide the first molecular characterization, to our knowledge, of the effect of the R258C mutation in SM α-a...

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Bibliografiske detaljer
Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Lu, Hailong, Fagnant, Patricia M., Bookwalter, Carol S., Joel, Peteranne, Trybus, Kathleen M.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4534267/
https://ncbi.nlm.nih.gov/pubmed/26153420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1507587112
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