Article
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
Human molecular genetics - 1 Aug 1999
Bianchi L, Shen Z, Dennis A T, Priori S G, Napolitano C, Ronchetti E, Bryskin R, Schwartz P J, Brown A M
Abstract excerpt
Mutations in the minK gene KCNE1 have been linked to the LQT5 variant of human long QT syndrome. MinK assembles with KvLQT1 to produce the slow delayed rectifier K+ current IKs and may assemble with HERG to modulate the rapid delayed rectifier IKr. We used electrophysiological and immunocytochemical methods to compare the cellular phenotypes of wild-type minK and four LQT5 mutants co-expressed with KvLQT1 in...
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