Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome

Mapping of interactions between the N- and C-termini and the channel core in HERG K+channels

(2013) Pilar de la Peña et al.   BIOCHEMICAL JOURNAL

Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain–domain interactions

(2013) Ying Ke et al.   BIOCHEMICAL JOURNAL

Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes

(2013) Elena Matsa et al.   EUROPEAN HEART JOURNAL

Direct interaction of eag domains and cyclic nucleotide–binding homology domains regulate deactivation gating in hERG channels

(2013) Elena C. Gianulis et al.   JOURNAL OF GENERAL PHYSIOLOGY

Mechanistic Basis for Type 2 Long QT Syndrome Caused by KCNH2 Mutations that Disrupt Conserved Arginine Residues in the Voltage Sensor

(2013) Christie M. McBride et al.   JOURNAL OF MEMBRANE BIOLOGY

The structural mechanism of KCNH-channel regulation by the eag domain

(2013) Yoni Haitin et al.   NATURE

Structural Properties of PAS Domains from the KCNH Potassium Channels

(2013) Ricardo Adaixo et al.   PLoS One

Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2

(2012) Parwez Aidery et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

HERG potassium channel regulation by the N-terminal eag domain

(2012) Ahleah S. Gustina et al.   CELLULAR SIGNALLING

Mechanism of Loss of Kv11.1 K + Current in Mutant T421M-Kv11.1–Expressing Rat Ventricular Myocytes

(2012) Sadguna Y. Balijepalli et al.   CIRCULATION

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

(2012) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties

(2012) Xiaoli Lu et al.   HEART RHYTHM

A Novel Missense Mutation Causing a G487R Substitution in the S2-S3 Loop of Humanether-à-go-go-Related Gene Channel

(2012) KOSHI KINOSHITA et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Structure of the carboxy-terminal region of a KCNH channel

(2012) Tinatin I. Brelidze et al.   NATURE

hERG K+ Channels: Structure, Function, and Clinical Significance

(2012) Jamie I. Vandenberg et al.   PHYSIOLOGICAL REVIEWS

Changes in Channel Trafficking and Protein Stability Caused by LQT2 Mutations in the PAS Domain of the HERG Channel

(2012) Carol A. Harley et al.   PLoS One

Identification of a NBD1-Binding Pharmacological Chaperone that Corrects the Trafficking Defect of F508del-CFTR

(2011) Heidi M. Sampson et al.   CHEMISTRY & BIOLOGY

Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

(2011) A. L. Lahti et al.   Disease Models & Mechanisms

Rescue of Aberrant Gating by a Genetically Encoded PAS (Per-Arnt-Sim) Domain in Several Long QT Syndrome Mutant HumanEther-á-go-go-related Gene Potassium Channels

(2011) Elena C. Gianulis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

hERG potassium channel gating is mediated by N- and C-terminal region interactions

(2011) Ahleah S. Gustina et al.   JOURNAL OF GENERAL PHYSIOLOGY

Modelling the long QT syndrome with induced pluripotent stem cells

(2011) Ilanit Itzhaki et al.   NATURE

Partially Dominant Mutant Channel Defect Corresponding with Intermediate LQT2 Phenotype

(2011) YAMINI KRISHNAN et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

The N–Terminal Tail of hERG Contains an Amphipathic α–Helix That Regulates Channel Deactivation

(2011) Chai Ann Ng et al.   PLoS One

Stability of domain structures in multi-domain proteins

(2011) Ramachandra M. Bhaskara et al.   Scientific Reports

NMR solution structure of the N-terminal domain of hERG and its interaction with the S4–S5 linker

(2010) Qingxin Li et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Novel Chemical Suppressors of Long QT Syndrome Identified by an In Vivo Functional Screen

(2010) David S. Peal et al.   CIRCULATION

Mechanistic Insight into Humanether-à-go-go-related Gene (hERG) K+Channel Deactivation Gating from the Solution Structure of the EAG Domain

(2010) Frederick W. Muskett et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rescue of Mutated Cardiac Ion Channels in Inherited Arrhythmia Syndromes

(2010) Sadguna Y Balijepalli et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY

Analysis of Disease-Linked Rhodopsin Mutations Based on Structure, Function, and Protein Stability Calculations

(2010) Elizabeth P. Rakoczy et al.   JOURNAL OF MOLECULAR BIOLOGY

Role of intracellular domains in the function of the herg potassium channel

(2009) Moza Al-Owais et al.   EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS

Hsp40 Chaperones Promote Degradation of the hERG Potassium Channel

(2009) Valerie E. Walker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Absence of Direct Cyclic Nucleotide Modulation of mEAG1 and hERG1 Channels Revealed with Fluorescence and Electrophysiological Methods

(2009) Tinatin I. Brelidze et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Not All hERG Pore Domain Mutations Have a Severe Phenotype: G584S Has an Inactivation Gating Defect with Mild Phenotype Compared to G572S, Which Has a Dominant Negative Trafficking Defect and a Severe Phenotype

(2009) JING TING ZHAO et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

(2009) Wataru Shimizu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia

(2009) Stephen J Huffaker et al.   NATURE MEDICINE

A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels

(2009) A. S. Gustina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

(2008) J. N. Johnson et al.   NEUROLOGY

The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells

(2008) Jianhua Huo et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Single mutations convert an outward K+ channel into an inward K+ channel

(2008) L. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA