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

Abstract excerpt

Significance Point mutations in the ACTA2 gene encoding smooth muscle (SM) α-actin cause familial thoracic aortic aneurysms and dissections and predispose to premature coronary artery disease, stroke, and moyamoya disease. Studies on the mechanistic basis of these diseases are partly hampered by inability to collect affected tissues from living patients. Fibroblasts cultured from minimally invasive patient skin...

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