Deregulated Ca(2+) cycling underlies the development of arrhythmia and heart disease due to mutant obscurin

Obscurins are cytoskeletal proteins with structural and regulatory roles encoded by OBSCN. Mutations in OBSCN are associated with the development of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Specifically, the R4344Q mutation present in immunoglobulin domain 58 (Ig58) was th...

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Bibliografske podrobnosti
izdano v:Sci Adv
Main Authors: Hu, Li-Yen R., Ackermann, Maegen A., Hecker, Peter A., Prosser, Benjamin L., King, Brendan, O’Connell, Kelly A., Grogan, Alyssa, Meyer, Logan C., Berndsen, Christopher E., Wright, Nathan T., Jonathan Lederer, W., Kontrogianni-Konstantopoulos, Aikaterini
Format: Artigo
Jezik:Inglês
Izdano: American Association for the Advancement of Science 2017
Teme:
Research Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5462502/
https://ncbi.nlm.nih.gov/pubmed/28630914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciadv.1603081
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