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Article

Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin.

Science advances - 1 Jun 2017

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

Abstract excerpt

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 the first to be linked with the development of HCM. To assess the effects of R4344Q in vivo, we generated the...

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Identifiers

PMID: 28630914
DOI: 10.1126/sciadv.1603081
PMCID: PMC5462502

Genes

OBSCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin.PMID 28630914Read ↗

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