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
A privileged ER compartment for posttranslational heteromeric assembly of an ion channel.
Kannan S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
A privileged ER compartment for post-translational heteromeric assembly of an ion channel.
Kannan S et al.
Biorxiv : the Preprint Server for Biology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Rescue of expression and function of long QT syndrome-causing mutant hERG channels by enhancing channel stability in the plasma membrane.
Davis J et al.
The Journal of Biological Chemistry, 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
Integration of validated functional evidence to support the pathogenicity of KCNH2 variants.
Aljassar RW et al.
Genetics in Medicine Open, 2024
Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Zhang Y et al.
Frontiers in Pharmacology, 2022
Reclassification of genetic variants in children with long QT syndrome.
Westphal DS et al.
Molecular Genetics & Genomic Medicine, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Interactions between voltage sensor and pore domains in a hERG K+ channel model from molecular simulations and the effects of a voltage sensor mutation.
Colenso CK et al.
Journal of Chemical Information and Modeling, 2013
A novel missense mutation causing a G487R substitution in the S2-S3 loop of human ether-à-go-go-related gene channel.
Kinoshita K et al.
Journal of Cardiovascular Electrophysiology, 2012
Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.
Wang Y et al.
Plos One, 2012
Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.
Lian J et al.
The Canadian Journal of Cardiology, 2010
Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.
Balijepalli SY et al.
Journal of Cardiovascular Pharmacology, 2010
HERG1 channelopathies.
Sanguinetti MC
Pflugers Archiv : European Journal of Physiology, 2010
Intragenic suppression of trafficking-defective KCNH2 channels associated with long QT syndrome.
Delisle BP et al.
Molecular Pharmacology, 2005
Degradation of trafficking-defective long QT syndrome type II mutant channels by the ubiquitin-proteasome pathway.
Gong Q et al.
The Journal of Biological Chemistry, 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
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.
Paulussen A et al.
The Journal of Biological Chemistry, 2002
Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus.
Kupershmidt S et al.
The Journal of Biological Chemistry, 2002
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
Larsen LA et al.
Human Mutation, 2001
Long-QT syndrome-associated missense mutations in the pore helix of the HERG potassium channel.
Huang FD et al.
Circulation, 2001
Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.
Nakajima T et al.
Febs Letters, 2000
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999
A plethora of mechanisms in the HERG-related long QT syndrome. Genetics meets electrophysiology.
Roden DM et al.
Cardiovascular Research, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.
Furutani M et al.
Circulation, 1999
N-linked glycosylation sites determine HERG channel surface membrane expression.
Petrecca K et al.
The Journal of Physiology, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.
Zhou Z et al.
The Journal of Biological Chemistry, 1998
[Sudden death due to genetic and biochemical disorders --long QT syndrome].
Hoshino Y et al.
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 1998