• Biology, Medicine
  • Published in
    The Journal of clinical…
    2015
  • DOI:10.1172/JCI80335

Normalization of Naxos plakoglobin levels restores cardiac function in mice.

@article{Zhang2015NormalizationON,
  title={Normalization of Naxos plakoglobin levels restores cardiac function in mice.},
  author={Zhiwei Zhang and Matthew J. Stroud and Jianlin Zhang and Xi Fang and Kunfu Ouyang and Kensuke Kimura and Yongxin Mu and Nancy D. Dalton and Yusu Gu and William H. Bradford and Kirk L. Peterson and Hongqiang Cheng and Xinmin Zhou and Ju Chen},
  journal={The Journal of clinical investigation},
  year={2015},
  volume={125 4},
  pages={
          1708-12
        }
}
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, cardiomyocyte-specific plakoglobin deficiency recapitulates many aspects of human AC, and… CONTINUE READING
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