Article
D242N, a KV7.1 LQTS mutation uncovers a key residue for IKs voltage dependence.
Journal of molecular and cellular cardiology - 1 Sept 2017
Moreno Cristina, Oliveras Anna, Bartolucci Chiara, Muñoz Carmen, de la Cruz Alicia, Peraza Diego A, Gimeno Juan R, Martín-Martínez Mercedes, Severi Stefano, Felipe Antonio, Lambiase Pier D, Gonzalez Teresa, Valenzuela Carmen
Abstract excerpt
KV7.1 and KCNE1 co-assemble to give rise to the IKs current, one of the most important repolarizing currents of the cardiac action potential. Its relevance is underscored by the identification of >500 mutations in KV7.1 and, at least, 36 in KCNE1, that cause Long QT Syndrome (LQTS). The aim of this study was to characterize the biophysical and cellular consequences of the D242N KV7.1 mutation associated with the...
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