Associated Papers
Parkinson's disease-linked Kir4.2 mutation R28C leads to loss of ion channel function.
Chen X et al.
The Journal of Physiology, 2025
Genetic variants associated with cardiac hypertrophy-related sudden cardiac death and cardiovascular outcomes in a Finnish population.
Doedens A et al.
Heart (british Cardiac Society), 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.
Tonggu L et al.
Nature Communications, 2024
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
Ma JG et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Dominant negative effects of SCN5A missense variants.
O'Neill MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.
Daimi H et al.
International Journal of Molecular Sciences, 2022
Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.
Iop L et al.
Cells, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant.
Doisne N et al.
Frontiers in Physiology, 2021
Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5.
Wang Z et al.
Channels (austin, Tex.), 2020
Characterization of an N-terminal Nav1.5 channel variant - a potential risk factor for arrhythmias and sudden death?
Scheiper-Welling S et al.
Bmc Medical Genetics, 2020
Alterations of Nedd4-2-binding capacity in PY-motif of NaV 1.5 channel underlie long QT syndrome and Brugada syndrome.
Wang Y et al.
Acta Physiologica (oxford, England), 2020
Experimental Models of Brugada syndrome.
Sendfeld F et al.
International Journal of Molecular Sciences, 2019
Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels.
Pérez-Hernández M et al.
Jci Insight, 2018
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Voltage-gated sodium channels assemble and gate as dimers.
Clatot J et al.
Nature Communications, 2017
Negative-dominance phenomenon with genetic variants of the cardiac sodium channel Nav1.5.
Sottas V et al.
Biochimica Et Biophysica Acta, 2016
Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model.
Shy D et al.
Biochimica Et Biophysica Acta, 2013
Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.
Gütter C et al.
Frontiers in Physiology, 2013
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.
Clatot J et al.
Cardiovascular Research, 2012
Unexpected dominance: Brugada syndrome SCN5A variants exert negative dominance via α-subunit interaction.
Rougier JS et al.
Cardiovascular Research, 2012
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Lack of influence of sex hormones on Brugada syndrome-associated mutant Nav1.5 sodium channel.
Yang G et al.
Journal of Electrocardiology, 0