Article
Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect.
Biochemical and biophysical research communications - 5 Sept 2008
Hsueh Chia-Hsiang, Chen Wen-Pin, Lin Jiunn-Lee, Liu Yen-Bin, Su Ming-Jai, Lai Ling-Ping
Abstract excerpt
Mutations of the KCNH2 with decreased channel activity lead to congenital long QT syndrome (LQTS). We studied the electrophysiological, glycosylation, trafficking and assembly properties of three novel KCNH2 mutations identified in Taiwanese patients with LQTS (p.N633D, p.R744fs, and p.P923fs). When expressed in HEK293T cells, p.N633D and p.R744fs HERG channels displayed no HERG current while p.P923fs HERG...
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