[HTML][HTML] SCN5A channelopathies–an update on mutations and mechanisms
T Zimmer, R Surber - Progress in biophysics and molecular biology, 2008 - Elsevier
Voltage-gated Na+ channels mediate the rapid upstroke of the action potential in excitable
tissues. Nav1. 5, encoded by the SCN5A gene, is the predominant isoform in the heart …
tissues. Nav1. 5, encoded by the SCN5A gene, is the predominant isoform in the heart …
[HTML][HTML] The role of mutations in the SCN5A gene in cardiomyopathies
E Zaklyazminskaya, S Dzemeshkevich - Biochimica et Biophysica Acta …, 2016 - Elsevier
The SCN5A gene encodes the alpha-subunit of the Na v 1.5 ion channel protein, which is
responsible for the sodium inward current (I Na). Since 1995 several hundred mutations in …
responsible for the sodium inward current (I Na). Since 1995 several hundred mutations in …
[HTML][HTML] Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death
X Zhang, S Chen, S Yoo, S Chakrabarti, T Zhang, T Ke… - Cell, 2008 - cell.com
Atrial fibrillation (AF) is the most common form of sustained clinical arrhythmia. We
previously mapped an AF locus to chromosome 5p13 in an AF family with sudden death in …
previously mapped an AF locus to chromosome 5p13 in an AF family with sudden death in …
Roles and regulation of the cardiac sodium channel Nav1.5: Recent insights from experimental studies
H Abriel - Cardiovascular research, 2007 - academic.oup.com
During the past decade, Nav1. 5, the main voltage-gated Na+ channel in the heart, has been
shown to be involved in many cardiac diseases. Genetic variants in the gene SCN5A …
shown to be involved in many cardiac diseases. Genetic variants in the gene SCN5A …
Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population
P Wang, Q Yang, X Wu, Y Yang, L Shi, C Wang… - Biochemical and …, 2010 - Elsevier
Atrial fibrillation (AF) is the most common cardiac arrhythmia in the clinic, and accounts for
more than 15% of strokes. Mutations in cardiac sodium channel α, β1 and β2 subunit genes …
more than 15% of strokes. Mutations in cardiac sodium channel α, β1 and β2 subunit genes …
[HTML][HTML] Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav1. 5
L Wu, SL Yong, C Fan, Y Ni, S Yoo, T Zhang… - Journal of Biological …, 2008 - ASBMB
The cardiac sodium channel Na v 1.5 is essential for the physiological function of the heart
and contributes to lethal cardiac arrhythmias and sudden death when mutated. Here, we …
and contributes to lethal cardiac arrhythmias and sudden death when mutated. Here, we …
Cardiac sodium channel Nav1. 5 mutations and cardiac arrhythmia
W Song, W Shou - Pediatric cardiology, 2012 - Springer
As a major cardiac voltage-gated sodium channel isoform in the heart, the Nav1. 5 channel
is essential for cardiac action potential initiation and subsequent propagation throughout the …
is essential for cardiac action potential initiation and subsequent propagation throughout the …
[HTML][HTML] αB-crystallin interacts with Nav1. 5 and regulates ubiquitination and internalization of cell surface Nav1. 5
Y Huang, Z Wang, Y Liu, H Xiong, Y Zhao, L Wu… - Journal of Biological …, 2016 - ASBMB
Na v 1.5, the pore-forming α subunit of the cardiac voltage-gated Na+ channel complex, is
required for the initiation and propagation of the cardiac action potential. Mutations in Na v …
required for the initiation and propagation of the cardiac action potential. Mutations in Na v …
Biophysical mechanisms of myocardium sodium channelopathies
AK Zaytseva, OE Kulichik, AA Kostareva… - Pflügers Archiv-European …, 2024 - Springer
Genetic variants of gene SCN5A encoding the alpha-subunit of cardiac voltage-gated
sodium channel Nav1. 5 are associated with various diseases, including long QT syndrome …
sodium channel Nav1. 5 are associated with various diseases, including long QT syndrome …
[HTML][HTML] Small GTPases SAR1A and SAR1B regulate the trafficking of the cardiac sodium channel Nav1. 5
Background The cardiac sodium channel Na v 1.5 is essential for the physiological function
of the heart and causes cardiac arrhythmias and sudden death when mutated. Many …
of the heart and causes cardiac arrhythmias and sudden death when mutated. Many …