Article
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Human molecular genetics - 15 Jun 2017
Zhou Can, Li Chen, Zhou Bin, Sun Huaqin, Koullourou Victoria, Holt Ian, Puckelwartz Megan J, Warren Derek T, Hayward Robert, Lin Ziyuan, Zhang Lin, Morris Glenn E, McNally Elizabeth M, Shackleton Sue, Rao Li, Shanahan Catherine M, Zhang Qiuping
Abstract excerpt
Nesprins-1 and -2 are highly expressed in skeletal and cardiac muscle and together with SUN (Sad1p/UNC84)-domain containing proteins and lamin A/C form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) bridging complex at the nuclear envelope (NE). Mutations in nesprin-1/2 have previously been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy...
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