Article
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
International journal of molecular sciences - 6 Apr 2022
Cócera-Ortega Lucía, Wilders Ronald, Kamps Selina C, Fabrizi Benedetta, Huber Irit, van der Made Ingeborg, van den Bout Anouk, de Vries Dylan K, Gepstein Lior, Verkerk Arie O, Pinto Yigal M, Tijsen Anke J
Abstract excerpt
Long-QT syndrome type 1 (LQT1) is caused by mutations in KCNQ1. Patients heterozygous for such a mutation co-assemble both mutant and wild-type KCNQ1-encoded subunits into tetrameric Kv7.1 potassium channels. Here, we investigated whether allele-specific inhibition of mutant KCNQ1 by targeting a common variant can shift the balance towards increased incorporation of the wild-type allele to alleviate the disease...
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