ArticleThe EMBO journal2000
A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.
Article in The EMBO journal, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed.
- Jervell and Lange-Nielsen Syndrome Related Clinical Genetics and Experimental Models.Pediatric discovery · 2026Review
- Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.Channels (Austin, Tex.) · 2025Article
- Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.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 · 2023Article
- Computational Study on Effect of KCNQ1 P535T Mutation in a Cardiac Ventricular Tissue.The Journal of membrane biology · 2023Article
- Does knowledge of the mutation in hereditary long QT syndrome aid risk stratification?European heart journal · 2021Article
- Kv7 Channels and Excitability Disorders.Handbook of experimental pharmacology · 2021Article
- Genetic intolerance analysis as a tool for protein science.Biochimica et biophysica acta. Biomembranes · 2020Review
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.Human mutation · 2019Article
- Doxorubicin induces caspase-mediated proteolysis of KV7.1.Communications biology · 2018Article
- The Role ofFrontiers in endocrinology · 2018Article
- Calmodulin confers calcium sensitivity to the stability of the distal intracellular assembly domain of Kv7.2 channels.Scientific reports · 2017Article
- Regulation of KCNQ/Kv7 family voltage-gated KBiochimica et biophysica acta. Biomembranes · 2017Review
- Molecular Pathophysiology of Congenital Long QT Syndrome.Physiological reviews · 2017Review
- Structural interplay of KHeartRhythm case reports · 2016Article
- Molecular pathogenesis of long QT syndrome type 1.Journal of arrhythmia · 2016Review
- Cardiac Delayed Rectifier Potassium Channels in Health and Disease.Cardiac electrophysiology clinics · 2016Review
- KCNQ potassium channels in sensory system and neural circuits.Acta pharmacologica Sinica · 2016Review
- The KCNQ1 channel - remarkable flexibility in gating allows for functional versatility.The Journal of physiology · 2015Review
- Identification of a key residue in Kv7.1 potassium channel essential for sensing external potassium ions.The Journal of general physiology · 2015Article
- Arrhythmogenic cardiomyopathy in a patient with a rare loss-of-function KCNQ1 mutation.Journal of the American Heart Association · 2015Article
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6 authors.
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Abstract
The LQT1 locus (KCNQ1) has been correlated with the most common form of inherited long QT (LQT) syndrome. LQT patients suffer from syncopal episodes and high risk of sudden death. The KCNQ1 gene encodes KvLQT1 alpha-subunits, which together with auxiliary IsK (KCNE1, minK) subunits form IK(s) K(+) channels. Mutant KvLQT1 subunits may be associated either with an autosomal dominant form of inherited LQT, Romano-Ward syndrome, or an autosomal recessive form, Jervell and Lange-Nielsen syndrome (JLNS). We have identified a small domain between residues 589 and 620 in the KvLQT1 C-terminus, which may function as an assembly domain for KvLQT1 subunits. KvLQT1 C-termini do not assemble and KvLQT1 subunits do not express functional K(+) channels without this domain. We showed that a JLN deletion-insertion mutation at KvLQT1 residue 544 eliminates important parts of the C-terminal assembly domain. Therefore, JLN mutants may be defective in KvLQT1 subunit assembly. The results provide a molecular basis for the clinical observation that heterozygous JLN carriers show slight cardiac dysfunctions and that the severe JLNS phenotype is characterized by the absence of KvLQT1 channel.
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