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   Articles with "kcnq1" as a keyword



KCNQ1 is internalized by activation of α1 adrenergic receptors.

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recommendations! Published in 2019 at "Biochemical pharmacology"

DOI: 10.1016/j.bcp.2019.113628

Abstract: KCNQ1 (Kv7.1 or KvLQT1) plays important physiological roles in various tissues forming potassium channels with KCNE subunits. Among the channels formed by KCNQ1 and KCNE subunits, the best studied is the slow delayed rectifier potassium… read more here.

Keywords: kcnq1; activation adrenergic; internalization; kcnq1 kcne1 ... See more keywords

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis

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recommendations! Published in 2025 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2412971122

Abstract: Significance Loss-of-function (LOF) pathogenic variants in the KCNQ1 potassium channel give rise to the cardiac arrhythmia disorder, long QT syndrome (LQTS). It is imperative to identify at-risk patients and administer preventative treatments, but current efforts… read more here.

Keywords: integrative analysis; kcnq1 variants; long syndrome; molecular mechanisms ... See more keywords

shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23074053

Abstract: 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… read more here.

Keywords: kcnq1; disease; targeting common; allele ... See more keywords

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants

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recommendations! Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24021350

Abstract: The KCNQ1 gene encodes the α-subunit of the cardiac voltage-gated potassium (Kv) channel KCNQ1, also denoted as Kv7.1 or KvLQT1. The channel assembles with the ß-subunit KCNE1, also known as minK, to generate the slowly… read more here.

Keywords: kcnq1; kcnq1 variants; romano ward; ward syndrome ... See more keywords

ML277 specifically enhances the fully activated open state of KCNQ1 by modulating VSD-pore coupling

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recommendations! Published in 2019 at "eLife"

DOI: 10.7554/elife.48576

Abstract: Upon membrane depolarization, the KCNQ1 potassium channel opens at the intermediate (IO) and activated (AO) states of the stepwise voltage-sensing domain (VSD) activation. In the heart, KCNQ1 associates with KCNE1 subunits to form IKs channels… read more here.

Keywords: vsd pore; pore coupling; state; vsd ... See more keywords