Article
Normalization of Naxos plakoglobin levels restores cardiac function in mice.
The Journal of clinical investigation - 1 Apr 2015
Zhang Zhiwei, Stroud Matthew J, Zhang Jianlin, Fang Xi, Ouyang Kunfu, Kimura Kensuke, Mu Yongxin, Dalton Nancy D, Gu Yusu, Bradford William H, Peterson Kirk L, Cheng Hongqiang, Zhou Xinmin, Chen Ju
Abstract excerpt
Arrhythmogenic cardiomyopathy (AC) is associated with mutations in genes encoding intercalated disc proteins and ultimately results in sudden cardiac death. A subset of patients with AC have the autosomal recessive cardiocutaneous disorder Naxos disease, which is caused by a 2-base pair deletion in the plakoglobin-encoding gene JUP that results in a truncated protein with reduced expression. In mice,...
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