Associated Papers
Molecular Determinants of Voltage-Dependent Gating in Kv11.1 Channels.
Hunter DV et al.
Advances in Experimental Medicine and Biology, 2026
Detecting organelle-specific activity of potassium channels with a DNA nanodevice.
Anees P et al.
Nature Biotechnology, 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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.
Veldhuizen J et al.
Science Advances, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Pharmacological corrections of the mutant hERG channels by posaconazole.
Luo C et al.
Clinical and Experimental Pharmacology & 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
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
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders.
Hou ZS et al.
Expert Review of Clinical Pharmacology, 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
Congenital Long QT syndrome and torsade de pointes.
El-Sherif N et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2017
Bag1 Co-chaperone Promotes TRC8 E3 Ligase-dependent Degradation of Misfolded Human Ether a Go-Go-related Gene (hERG) Potassium Channels.
Hantouche C et al.
The Journal of Biological Chemistry, 2017
Pharmacological rescue of hERG currents carried out by G604S and wide type hERG co-expression.
Huo J et al.
Clinical and Experimental Pharmacology & Physiology, 2016
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
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
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
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
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.
Sampson HM et al.
Orphanet Journal of Rare Diseases, 2013
Pharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and Thapsigargin.
Mao H et al.
Plos One, 2013
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
Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles.
Hayashi K et al.
Heart Rhythm, 2010
Co-chaperone FKBP38 promotes HERG trafficking.
Walker VE et al.
The Journal of Biological Chemistry, 2007
Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.
Robben JH et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007
Pharmacogenetics and cardiac ion channels.
Roepke TK et al.
Vascular Pharmacology, 2006
HERG trafficking and pharmacological rescue of LQTS-2 mutant channels.
Robertson GA et al.
Handbook of Experimental Pharmacology, 2006
HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.
Paulussen AD et al.
Cardiovascular Research, 2005
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
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
Delisle BP et al.
Molecular Pharmacology, 2005
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.
Gouas L et al.
Cardiovascular Research, 2004
Biology of cardiac arrhythmias: ion channel protein trafficking.
Delisle BP et al.
Circulation Research, 2004
Thapsigargin selectively rescues the trafficking defective LQT2 channels G601S and F805C.
Delisle BP et al.
The Journal of Biological Chemistry, 2003
Is restoration of intracellular trafficking clinically feasible in the long QT syndrome?: The example of HERG mutations.
Kaufman ES et al.
Journal of Cardiovascular Electrophysiology, 2003
Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.
Moss AJ et al.
Circulation, 2002
The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.
Ficker E et al.
The Journal of Biological Chemistry, 2002
Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations.
Benhorin J et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2002
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000