Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes

Abstract The c.453delC (p.Thr152Profs*14) frameshift mutation in KCNH2 is associated with an elevated risk of Long QT syndrome (LQTS) and fatal arrhythmia. Nevertheless, the loss-of-function mechanism underlying this mutation remains unexplored and necessitates an understanding of electrophysiology....

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Veröffentlicht in:	Human molecular genetics 2024-01, Vol.33 (2), p.110-121
Hauptverfasser:	Park, Na Kyeong, Park, Soon-Jung, Park, Yun-Gwi, Moon, Sung-Hwan, Woo, JooHan, Kim, Hyun Jong, Kim, Sung Joon, Choi, Seong Woo
Format:	Artikel
Sprache:	eng
Schlagworte:	ERG1 Potassium Channel - genetics ERG1 Potassium Channel - metabolism Ether-A-Go-Go Potassium Channels - genetics Frameshift Mutation Heterozygote Humans Induced Pluripotent Stem Cells - metabolism Long QT Syndrome - genetics Long QT Syndrome - metabolism Mutation Myocytes, Cardiac - metabolism
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