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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: American Association for the Advancement of Science 2017
Assuntos:
Research Articles
Acesso em linha: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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