Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

doi:10.1161/CIRCEP.122.011387

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Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Circulation. Arrhythmia and electrophysiology - 1 Mar 2023

Gao Jingshan, Makiyama Takeru, Yamamoto Yuta, Kobayashi Takuya, Aoki Hisaaki, Maurissen Thomas L, Wuriyanghai Yimin, Kashiwa Asami, Imamura Tomohiko, Aizawa Takanori, Huang Hai, Kohjitani Hirohiko, Nishikawa Misato, Chonabayashi Kazuhisa, Fukuyama Megumi, Manabe Hiromi, Nakau Kouichi, Wada Tsutomu, Kato Koichi, Toyoda Futoshi, Yoshida Yoshinori, Makita Naomasa, Woltjen Knut, Ohno Seiko, Kurebayashi Nagomi, Murayama Takashi, Sakurai Takashi, Horie Minoru, Kimura Takeshi

Abstract excerpt

BACKGROUND: CaM (calmodulin) is a ubiquitously expressed, multifunctional Ca2+ sensor protein that regulates numerous proteins. Recently, CaM missense variants have been identified in patients with malignant inherited arrhythmias, such as long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). However, the exact mechanism of CaM-related CPVT in human cardiomyocytes remains unclear. In...

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PMID: 36866681
DOI: 10.1161/CIRCEP.122.011387

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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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