Article
Mutation-linked, excessively tight interaction between the calmodulin binding domain and the C-terminal domain of the cardiac ryanodine receptor as a novel cause of catecholaminergic polymorphic ventricular tachycardia.
Heart rhythm - 1 Jun 2018
Nishimura Shigehiko, Yamamoto Takeshi, Nakamura Yoshihide, Kohno Michiaki, Hamada Yoriomi, Sufu Yoko, Fukui Go, Nanno Takuma, Ishiguchi Hironori, Kato Takayoshi, Xu Xiaojuan, Ono Makoto, Oda Tetsuro, Okuda Shinichi, Kobayashi Shigeki, Yano Masafumi
Abstract excerpt
BACKGROUND: Ryanodine receptor (RyR2) is known to be a causal gene of catecholaminergic polymorphic ventricular tachycardia (CPVT), an important inherited disease. Some of the human CPVT-associated mutations have been found in a domain (4026-4172) that has EF hand motifs, the so-called calmodulin (CaM)-like domain (CaMLD). OBJECTIVE: The purpose of this study was to investigate the underlying mechanism by which...
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