Patient mutations linked to arrhythmogenic cardiomyopathy enhance calpain-mediated desmoplakin degradation

Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder with variable genetic etiologies. Here, we focused on understanding the precise molecular pathology of a single clinical variant in DSP, the gene encoding desmoplakin. We initially identified a potentially novel missense desmoplakin varian...

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Udgivet i:JCI Insight
Main Authors: Ng, Ronald, Manring, Heather, Papoutsidakis, Nikolaos, Albertelli, Taylor, Tsai, Nicole, See, Claudia J., Li, Xia, Park, Jinkyu, Stevens, Tyler L., Bobbili, Prameela J., Riaz, Muhammad, Ren, Yongming, Stoddard, Christopher E., Janssen, Paul M.L., Bunch, T. Jared, Hall, Stephen P., Lo, Ying-Chun, Jacoby, Daniel L., Qyang, Yibing, Wright, Nathan, Ackermann, Maegen A., Campbell, Stuart G.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2019
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6675562/
https://ncbi.nlm.nih.gov/pubmed/31194698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.128643
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