Associated Papers
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 2026
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 2025
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.
Gariballa N et al.
Journal of Biomedical Science, 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
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
Global analysis of suppressor mutations that rescue human genetic defects.
Ünlü B et al.
Genome Medicine, 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
The Advantages, Challenges, and Future of Human-Induced Pluripotent Stem Cell Lines in Type 2 Long QT Syndrome.
Cai D et al.
Journal of Cardiovascular Translational Research, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 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
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants.
Kozek K et al.
Circulation. Genomic and Precision Medicine, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
hiPSC-Derived Cardiomyocyte Model of LQT2 Syndrome Derived from Asymptomatic and Symptomatic Mutation Carriers Reproduces Clinical Differences in Aggregates but Not in Single Cells.
Shah D et al.
Cells, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.
Foo B et al.
Scientific Reports, 2019
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Hypoxia induced hERG trafficking defect linked to cell cycle arrest in SH-SY5Y cells.
Vaddi DR et al.
Plos One, 2019
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
Chai S et al.
The Journal of Clinical Investigation, 2018
Restoration of mutant hERG stability by inhibition of HDAC6.
Li P et al.
Journal of Molecular and Cellular Cardiology, 2018
Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2.
Hall AR et al.
Frontiers in Physiology, 2018
Molecular mechanisms underlying the pilsicainide-induced stabilization of hERG proteins in transfected mammalian cells.
Onohara T et al.
Journal of Arrhythmia, 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
Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2.
Liu L et al.
Frontiers in Physiology, 2016
5'-adenosine monophosphate mediated cooling treatment enhances ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) stability in vivo.
Zhang Y et al.
Journal of Biomedical Science, 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
The role of the cytosolic HSP70 chaperone system in diseases caused by misfolding and aberrant trafficking of ion channels.
Young JC
Disease Models & Mechanisms, 2014
Hsp90 prevents interaction between CHIP and HERG proteins to facilitate maturation of wild-type and mutant HERG proteins.
Iwai C et al.
Cardiovascular Research, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
Jou CJ et al.
Circulation Research, 2013
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
A422T mutation in HERG potassium channel retained in ER is rescurable by pharmacologic or molecular chaperones.
Guo J et al.
Biochemical and Biophysical Research Communications, 2012
Activation of human ether-a-go-go related gene (hERG) potassium channels by small molecules.
Zhou PZ et al.
Acta Pharmacologica Sinica, 2011
Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability.
Li P et al.
Circulation Research, 2011
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.
Harkcom WT et al.
Expert Review of Cardiovascular Therapy, 2010
Iatrogenic QT Abnormalities and Fatal Arrhythmias: Mechanisms and Clinical Significance.
Cubeddu LX
Current Cardiology Reviews, 2009
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
Nagaoka I et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Co-chaperone FKBP38 promotes HERG trafficking.
Walker VE et al.
The Journal of Biological Chemistry, 2007
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.
Anderson CL et al.
Circulation, 2006
HERG trafficking and pharmacological rescue of LQTS-2 mutant channels.
Robertson GA et al.
Handbook of Experimental Pharmacology, 2006
Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization.
Akhavan A et al.
Journal of Cell Science, 2005