The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells

We have recently identified a missense mutation, G604S, in the human ether-a-go-go related gene ( hERG ) that results in a malignant phenotype in a full pedigree of a Chinese congenital long QT syndrome (LQTS) family. The present study characterized the pathophysiological consequences of the mutatio...

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Veröffentlicht in:	Pflügers Archiv 2008-08, Vol.456 (5), p.917-928
Hauptverfasser:	Huo, Jianhua, Zhang, Yanmin, Huang, Na, Liu, Ping, Huang, Chen, Guo, Xueyan, Jiang, Wenhui, Zhou, Nan, Grace, Andrew, Huang, Christopher L. H., Ma, Aiqun
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Cell Biology Cell Line ERG1 Potassium Channel Ether-A-Go-Go Potassium Channels - genetics Ether-A-Go-Go Potassium Channels - metabolism Human Physiology Humans Ion Channel Gating Ion Channels Long QT Syndrome - genetics Long QT Syndrome - metabolism Molecular Medicine Mutagenesis, Site-Directed Mutation Mutation, Missense Neurosciences Patch-Clamp Techniques Protein Subunits - genetics Protein Subunits - metabolism Receptors Recombinant Fusion Proteins - genetics Recombinant Fusion Proteins - metabolism
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