Molecular pathophysiology of congenital long QT syndrome

MS Bohnen, G Peng, SH Robey… - Physiological …, 2017 - journals.physiology.org
Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …

KCNQ-encoded potassium channels as therapeutic targets

V Barrese, JB Stott, IA Greenwood - Annual review of …, 2018 - annualreviews.org
Kv7 channels are voltage-gated potassium channels encoded by KCNQ genes that have a
considerable physiological impact in many cell types. This reliance upon Kv7 channels for …

Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277

K Willegems, J Eldstrom, E Kyriakis, F Ataei… - Nature …, 2022 - nature.com
The KCNQ1 ion channel plays critical physiological roles in electrical excitability and K+
recycling in organs including the heart, brain, and gut. Loss of function is relatively common …

Voltage-dependent gating: novel insights from KCNQ1 channels

J Cui - Biophysical journal, 2016 - cell.com
Gating of voltage-dependent cation channels involves three general molecular processes:
voltage sensor activation, sensor-pore coupling, and pore opening. KCNQ1 is a voltage …

The genetics and epigenetics of ventricular arrhythmias in patients without structural heart disease

M Wang, X Tu - Frontiers in Cardiovascular Medicine, 2022 - frontiersin.org
Ventricular arrhythmia without structural heart disease is an arrhythmic disorder that occurs
in structurally normal heart and no transient or reversible arrhythmia factors, such as …

Gating and regulation of KCNQ1 and KCNQ1+ KCNE1 channel complexes

Y Wang, J Eldstrom, D Fedida - Frontiers in Physiology, 2020 - frontiersin.org
The IKs channel complex is formed by the co-assembly of Kv7. 1 (KCNQ1), a voltage-gated
potassium channel, with its β-subunit, KCNE1 and the association of numerous accessory …

Competition of calcified calmodulin N lobe and PIP2 to an LQT mutation site in Kv7.1 channel

WS Tobelaim, M Dvir, G Lebel, M Cui… - Proceedings of the …, 2017 - National Acad Sciences
Voltage-gated potassium 7.1 (Kv7. 1) channel and KCNE1 protein coassembly forms the
slow potassium current IKS that repolarizes the cardiac action potential. The physiological …

Kv7 channels and excitability disorders

F Jones, N Gamper, H Gao - Pharmacology of Potassium Channels, 2021 - Springer
Abstract Kv7. 1-Kv7. 5 (KCNQ1–5) K+ channels are voltage-gated K+ channels with major
roles in neurons, muscle cells and epithelia where they underlie physiologically important …

[HTML][HTML] Molecular pathogenesis of long QT syndrome type 1

J Wu, WG Ding, M Horie - Journal of arrhythmia, 2016 - Elsevier
Long QT syndrome type 1 (LQT1) is a subtype of a congenital cardiac syndrome caused by
mutation in the KCNQ1 gene, which encodes the α-subunit of the slow component of …

Development of automated patch clamp assays to overcome the burden of variants of uncertain significance in inheritable arrhythmia syndromes

JG Ma, JI Vandenberg, CA Ng - Frontiers in Physiology, 2023 - frontiersin.org
Advances in next-generation sequencing have been exceptionally valuable for identifying
variants in medically actionable genes. However, for most missense variants there is …