Article
Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction.
Heart rhythm - 1 Dec 2009
Biliczki Peter, Girmatsion Zenawit, Brandes Ralf P, Harenkamp Sabine, Pitard Bruno, Charpentier Flavien, Hébert Terence E, Hohnloser Stefan H, Baró Isabelle, Nattel Stanley, Ehrlich Joachim R
Abstract excerpt
BACKGROUND: KCNQ1-T587M is a trafficking-deficient long QT syndrome (LQTS) missense mutation. Affected patients exhibit severe clinical phenotypes that are not explained by the mutant's effects on I(Ks). Previous work showed a KCNH2 and KCNQ1 alpha-subunit interaction that increases KCNH2 membran...
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