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
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 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
Hsp47 promotes biogenesis of multi-subunit neuroreceptors in the endoplasmic reticulum.
Wang YJ et al.
Elife, 2024
The proteostasis interactomes of trafficking-deficient variants of the voltage-gated potassium channel KV11.1 associated with long QT syndrome.
Egly CL et al.
The Journal of Biological Chemistry, 2024
The proteostasis interactomes of trafficking-deficient K V 11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue.
Egly CL et al.
Biorxiv : the Preprint Server for Biology, 2024
Computational insights into the mechanisms underlying structural destabilization and recovery in trafficking-deficient hERG mutants.
AlRawashdeh S et al.
Frontiers in Molecular Biosciences, 2024
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y et al.
Channels (austin, Tex.), 2022
A High-Throughput Screening Assay to Identify Drugs that Can Treat Long QT Syndrome Caused by Trafficking-Deficient KV11.1 (hERG) Variants.
Egly CL et al.
Molecular Pharmacology, 2022
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Utility of Zebrafish Models of Acquired and Inherited Long QT Syndrome.
Simpson KE et al.
Frontiers in Physiology, 2020
Identification of small-molecule ion channel modulators in C. elegans channelopathy models.
Jiang Q et al.
Nature Communications, 2018
A forward genetic screen identifies chaperone CNX-1 as a conserved biogenesis regulator of ERG K+ channels.
Bai X et al.
The Journal of General Physiology, 2018
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
NS1643 enhances ionic currents in a G604S-WT hERG co-expression system associated with long QT syndrome 2.
Huo J et al.
Clinical and Experimental Pharmacology & Physiology, 2017
Modulation of Kv 11.1 (hERG) channels by 5-(((1H-indazol-5-yl)oxy)methyl)-N-(4-(trifluoromethoxy)phenyl)pyrimidin-2-amine (ITP-2), a novel small molecule activator.
Sale H et al.
British Journal of Pharmacology, 2017
Molecular pathogenesis of long QT syndrome type 2.
Smith JL et al.
Journal of Arrhythmia, 2016
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
Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.
Cubeddu LX
Current Cardiology Reviews, 2016
Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2.
Liu L et al.
Frontiers in Physiology, 2016
L-type Calcium Channel Blockers Enhance Trafficking and Function of Epilepsy-associated α1(D219N) Subunits of GABA(A) Receptors.
Han DY et al.
Acs Chemical Biology, 2015
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
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Duarri A et al.
Cellular and Molecular Life Sciences : Cmls, 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
Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome.
Yu H et al.
International Journal of Molecular Medicine, 2014
Long QT syndrome. Electrical miscues of the heart.
Unknown Author
Mayo Clinic Health Letter (english Ed.), 2014
Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.
Smith JL et al.
American Journal of Physiology. Cell Physiology, 2013
Current pharmacogenomic studies on hERG potassium channels.
He FZ et al.
Trends in Molecular Medicine, 2013
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
Jou CJ et al.
Circulation Research, 2013
A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome.
Liu L et al.
Heart Rhythm, 2013
Mutation location matters in long QT syndrome type 2 (but behavior matters more).
Kaufman ES
Heart Rhythm, 2013
Pharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and Thapsigargin.
Mao H et al.
Plos One, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
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
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
Zhu J et al.
Archives of Biochemistry and Biophysics, 2012
hERG K(+) channels: structure, function, and clinical significance.
Vandenberg JI et al.
Physiological Reviews, 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
Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death.
Duricka DL et al.
The Biochemical Journal, 2012
Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.
Wang Y et al.
Plos One, 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
Trafficking-deficient hERG K⁺ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER.
Smith JL et al.
American Journal of Physiology. Cell Physiology, 2011