Article
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Human molecular genetics - 1 May 2017
Yamamoto Yuta, Makiyama Takeru, Harita Takeshi, Sasaki Kenichi, Wuriyanghai Yimin, Hayano Mamoru, Nishiuchi Suguru, Kohjitani Hirohiko, Hirose Sayako, Chen Jiarong, Yokoi Fumika, Ishikawa Taisuke, Ohno Seiko, Chonabayashi Kazuhisa, Motomura Hideki, Yoshida Yoshinori, Horie Minoru, Makita Naomasa, Kimura Takeshi
Abstract excerpt
Calmodulin is a ubiquitous Ca2+ sensor molecule encoded by three distinct calmodulin genes, CALM1-3. Recently, mutations in CALM1-3 have been reported to be associated with severe early-onset long-QT syndrome (LQTS). However, the underlying mechanism through which heterozygous calmodulin mutations lead to severe LQTS remains unknown, particularly in human cardiomyocytes. We aimed to establish an LQTS disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.