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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2017
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462502/
https://www.ncbi.nlm.nih.gov/pubmed/28630914
http://dx.doi.org/10.1126/sciadv.1603081

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462502/
https://www.ncbi.nlm.nih.gov/pubmed/28630914
http://dx.doi.org/10.1126/sciadv.1603081

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