Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations

New horizons for cystic fibrosis treatment

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Predicting the Functional Impact of KCNQ1 Variants of Unknown SignificanceCLINICAL PERSPECTIVE

(2017) Bian Li et al.   Circulation-Cardiovascular Genetics

Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels

(2016) Jianmin Cui   BIOPHYSICAL JOURNAL

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KCNE1 and KCNE3: The yin and yang of voltage-gated K+ channel regulation

(2016) Geoffrey W. Abbott   GENE

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

(2016) Jianping Wu et al.   NATURE

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations

(2015) Ivone US Leong et al.   BMC Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of IKs with S3 domain mutations in KCNQ1

(2015) Jodene Eldstrom et al.   HEART RHYTHM

Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

(2015) Michael J. Ackerman   HEART RHYTHM

KCNQ1 channel modulation by KCNE proteins via the voltage-sensing domain

(2015) Koichi Nakajo et al.   JOURNAL OF PHYSIOLOGY-LONDON

The KCNQ1 channel - remarkable flexibility in gating allows for functional versatility

(2015) Sara I. Liin et al.   JOURNAL OF PHYSIOLOGY-LONDON

Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22

(2015) Jonathan P. Schlebach et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Structure of the voltage-gated two-pore channel TPC1 from Arabidopsis thaliana

(2015) Jiangtao Guo et al.   NATURE

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

(2015) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

Purification and Structural Study of the Voltage-Sensor Domain of the Human KCNQ1 Potassium Ion Channel

(2014) Dungeng Peng et al.   BIOCHEMISTRY

Recent molecular insights from mutated IKS channels in cardiac arrhythmia

(2014) Meidan Dvir et al.   CURRENT OPINION IN PHARMACOLOGY

Understanding how cystic fibrosis mutations disrupt CFTR function: From single molecules to animal models

(2014) Yiting Wang et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

PTRAJ and CPPTRAJ: Software for Processing and Analysis of Molecular Dynamics Trajectory Data

(2013) Daniel R. Roe et al.   Journal of Chemical Theory and Computation

Structure of the TRPV1 ion channel determined by electron cryo-microscopy

(2013) Maofu Liao et al.   NATURE

High-Resolution Comparative Modeling with RosettaCM

(2013) Yifan Song et al.   STRUCTURE

Trafficking of the IKs-Complex in MDCK Cells: Site of Subunit Assembly and Determinants of Polarized Localization

(2013) Jens-Peter David et al.   TRAFFIC

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

The Mammalian Endoplasmic Reticulum-Associated Degradation System

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KCNE Regulation of K+ Channel Trafficking – a Sisyphean Task?

(2012) Vikram A. Kanda et al.   Frontiers in Physiology

The crystal structure of a voltage-gated sodium channel

(2011) Jian Payandeh et al.   NATURE

OPM database and PPM web server: resources for positioning of proteins in membranes

(2011) Mikhail A. Lomize et al.   NUCLEIC ACIDS RESEARCH

CFTR: folding, misfolding and correcting the ΔF508 conformational defect

(2011) Gergely L. Lukacs et al.   TRENDS IN MOLECULAR MEDICINE

KCNQ1/KCNE1 assembly, co-translation not required

(2010) Carlos G. Vanoye et al.   Channels

LQTS gene LOVD database

(2010) Tao Zhang et al.   HUMAN MUTATION

The Cavβ subunit prevents RFP2-mediated ubiquitination and proteasomal degradation of L-type channels

(2010) Christophe Altier et al.   NATURE NEUROSCIENCE

Biophysical Properties of 9 KCNQ1 Mutations Associated With Long-QT Syndrome

(2009) Tao Yang et al.   Circulation-Arrhythmia and Electrophysiology

Long QT Syndrome–Associated Mutations in KCNQ1 and KCNE1 Subunits Disrupt Normal Endosomal Recycling of I Ks Channels

(2008) Guiscard Seebohm et al.   CIRCULATION RESEARCH

LQT1-associated Mutations Increase KCNQ1 Proteasomal Degradation Independently of Derlin-1

(2008) David Peroz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels

(2008) Lioara Restier et al.   JOURNAL OF PHYSIOLOGY-LONDON

TarO: a target optimisation system for structural biology

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