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

CaM (calmodulin) is a ubiquitously expressed, multifunctional Ca 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...

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Veröffentlicht in:	Circulation. Arrhythmia and electrophysiology 2023-03, Vol.16 (3), p.e011387-e011387
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Arrhythmias, Cardiac Calcium - metabolism Calmodulin - genetics Calmodulin - metabolism Humans Induced Pluripotent Stem Cells - metabolism Long QT Syndrome - genetics Long QT Syndrome - metabolism Mutation Myocytes, Cardiac - metabolism Ryanodine Receptor Calcium Release Channel - genetics Ryanodine Receptor Calcium Release Channel - metabolism Tachycardia, Ventricular - metabolism
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