POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

doi:10.1172/JCI79562

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Article

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

The Journal of clinical investigation - 1 Jan 2016

Schindler Roland F R, Scotton Chiara, Zhang Jianguo, Passarelli Chiara, Ortiz-Bonnin Beatriz, Simrick Subreena, Schwerte Thorsten, Poon Kar-Lai, Fang Mingyan, Rinné Susanne, Froese Alexander, Nikolaev Viacheslav O, Grunert Christiane, Müller Thomas, Tasca Giorgio, Sarathchandra Padmini, Drago Fabrizio, Dallapiccola Bruno, Rapezzi Claudio, Arbustini Eloisa, Di Raimo Francesca Romana, Neri Marcella, Selvatici Rita, Gualandi Francesca, Fattori Fabiana, Pietrangelo Antonello, Li Wenyan, Jiang Hui, Xu Xun, Bertini Enrico, Decher Niels, Wang Jun, Brand Thomas, Ferlini Alessandra

Abstract excerpt

The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, we have described a homozygous missense variant...

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Share to Arrhythmias, Cardiac

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cyclic AMP

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Share to Muscular Dystrophies, Limb-Girdle

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Source

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Identifiers

PMID: 26642364
DOI: 10.1172/JCI79562
PMCID: PMC4701561

Genes

POPDC1
POPDC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.PMID 26642364Read ↗

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