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 …

Driving with no brakes: molecular pathophysiology of Kv7 potassium channels

MV Soldovieri, F Miceli, M Taglialatela - Physiology, 2011 - journals.physiology.org
Kv7 potassium channels regulate excitability in neuronal, sensory, and muscular cells. Here,
we describe their molecular architecture, physiological roles, and involvement in genetically …

Mitochondrial K+ channels and their implications for disease mechanisms

V Checchetto, L Leanza, D De Stefani, R Rizzuto… - Pharmacology & …, 2021 - Elsevier
The field of mitochondrial ion channels underwent a rapid development during the last
decade, thanks to the molecular identification of some of the nuclear-encoded organelle …

[HTML][HTML] Structural basis of a Kv7. 1 potassium channel gating module: studies of the intracellular c-terminal domain in complex with calmodulin

D Sachyani, M Dvir, R Strulovich, G Tria, W Tobelaim… - Structure, 2014 - cell.com
Kv7 channels tune neuronal and cardiomyocyte excitability. In addition to the channel
membrane domain, they also have a unique intracellular C-terminal (CT) domain, bound …

[HTML][HTML] A calmodulin C-lobe Ca2+-dependent switch governs Kv7 channel function

A Chang, F Abderemane-Ali, GL Hura, ND Rossen… - Neuron, 2018 - cell.com
Summary Kv7 (KCNQ) voltage-gated potassium channels control excitability in the brain,
heart, and ear. Calmodulin (CaM) is crucial for Kv7 function, but how this calcium sensor …

Domain–domain interactions determine the gating, permeation, pharmacology, and subunit modulation of the IKs ion channel

MA Zaydman, MA Kasimova, K McFarland, Z Beller… - Elife, 2014 - elifesciences.org
Voltage-gated ion channels generate electrical currents that control muscle contraction,
encode neuronal information, and trigger hormonal release. Tissue-specific expression of …

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 …

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 …

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

AD Wei, P Wakenight, TA Zwingman… - Journal of …, 2022 - journals.physiology.org
We identified six novel de novo human KCNQ5 variants in children with motor/language
delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing. These …

Dominant-Negative Control of cAMP-Dependent IKs Upregulation in Human Long-QT Syndrome Type 1

J Heijman, RL Spätjens, SRM Seyen, V Lentink… - Circulation …, 2012 - Am Heart Assoc
Rationale: The mutation A341V in the S6 transmembrane segment of KCNQ1, the α-subunit
of the slowly activating delayed-rectifier K+ (IKs) channel, predisposes to a severe long-QT1 …