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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Adv
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Association for the Advancement of Science 2017
Aiheet:
Research Articles
Linkit: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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