Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts

The most common genetic alterations for familial thoracic aortic aneurysms and dissections (TAAD) are missense mutations in vascular smooth muscle (SM) α-actin encoded by ACTA2. We focus here on ACTA2–R258C, a recurrent mutation associated with early onset of TAAD and occlusive moyamoya-like cerebro...

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Publicat a:Proc Natl Acad Sci U S A
Autors principals: Liu, Zhenan, Chang, Audrey N., Grinnell, Frederick, Trybus, Kathleen M., Milewicz, Dianna M., Stull, James T., Kamm, Kristine E.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2017
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PNAS Plus
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5514740/
https://ncbi.nlm.nih.gov/pubmed/28652363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1703506114
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