Associated Papers
SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.
Chatelain FC et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 2026
Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.
Liu H et al.
Pacing and Clinical Electrophysiology : Pace, 2025
Beneficial normalization of cardiac repolarization by carnitine in transgenic short QT syndrome type 1 rabbit models.
Bodi I et al.
Cardiovascular Research, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
Targeted activation of human ether-à-go-go-related gene channels rescues electrical instability induced by the R56Q+/- long QT syndrome variant.
Venkateshappa R et al.
Cardiovascular Research, 2023
Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
Immadisetty K et al.
Journal of Molecular and Cellular Cardiology, 2023
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Binding of RPR260243 at the intracellular side of the hERG1 channel pore domain slows closure of the helix bundle crossing gate.
Zangerl-Plessl EM et al.
Frontiers in Molecular Biosciences, 2023
Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.
El Harchi A et al.
Journal of Arrhythmia, 2022
Hysteretic hERG channel gating current recorded at physiological temperature.
Jones DK
Scientific Reports, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Electrophysiological characterization of the hERG R56Q LQTS variant and targeted rescue by the activator RPR260243.
Kemp JM et al.
The Journal of General Physiology, 2021
Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology.
Ng CA et al.
Biology Methods & Protocols, 2021
A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.
Anderson CL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.
Wang M et al.
American Journal of Translational Research, 2020
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
Foo B et al.
Scientific Reports, 2019
The hERG potassium channel intrinsic ligand regulates N- and C-terminal interactions and channel closure.
Codding SJ et al.
The Journal of General Physiology, 2019
Exploiting ion channel structure to assess rare variant pathogenicity.
Kroncke BM et al.
Heart Rhythm, 2018
Fluid flow modulates electrical activity in cardiac hERG potassium channels.
Roy S et al.
The Journal of Biological Chemistry, 2018
Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.
Kanner SA et al.
Frontiers in Physiology, 2018
The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.
Phan K et al.
The Journal of Biological Chemistry, 2017
Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.
Perry MD et al.
The Journal of Physiology, 2016
Structure of the Cyclic Nucleotide-Binding Homology Domain of the hERG Channel and Its Insight into Type 2 Long QT Syndrome.
Li Y et al.
Scientific Reports, 2016
Getting to the heart of hERG K(+) channel gating.
Perry MD et al.
The Journal of Physiology, 2015
Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.
Goodchild SJ et al.
Biophysical Journal, 2015
The enigmatic cytoplasmic regions of KCNH channels.
Morais-Cabral JH et al.
Journal of Molecular Biology, 2015
Eag Domains Regulate LQT Mutant hERG Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Liu QN et al.
Plos One, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels.
Ng CA et al.
The Journal of Biological Chemistry, 2014
Insight into the molecular interaction between the cyclic nucleotide-binding homology domain and the eag domain of the hERG channel.
Li Q et al.
Febs Letters, 2014
Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels.
Thomson SJ et al.
The Journal of Biological Chemistry, 2014
Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane.
Apaja PM et al.
Molecular Biology of the Cell, 2013
The structural mechanism of KCNH-channel regulation by the eag domain.
Haitin Y et al.
Nature, 2013
Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain-domain interactions.
Ke Y et al.
The Biochemical Journal, 2013
Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.
McBride CM et al.
The Journal of Membrane Biology, 2013
Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating.
Balijepalli SY et al.
Circulation, 2012
A case of long QT syndrome having compound mutations of KCNH2 and SCN5A.
Ito S et al.
Journal of Cardiology Cases, 2012
HERG potassium channel regulation by the N-terminal eag domain.
Gustina AS et al.
Cellular Signalling, 2012
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 2012
Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.
Harley CA et al.
Plos One, 2012