Associated Papers
Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.
Tsai WC et al.
Jci Insight, 2025
Induced Pluripotent Stem Cells in Congenital Long QT Syndrome: Research Progress and Clinical Applications.
Li Q et al.
Reviews in Cardiovascular Medicine, 2025
Neurological consequences of human calmodulin mutations.
Jensen HH et al.
Neural Regeneration Research, 2024
Calmodulin Mutations in Human Disease.
Hussey JW et al.
Channels (austin, Tex.), 2023
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
Jensen HH et al.
Human Molecular Genetics, 2023
Arrhythmia-associated Calmodulin Variants Interact with KCNQ1 to Confer Aberrant Membrane Trafficking and Function.
Kang PW et al.
Biorxiv : the Preprint Server for Biology, 2023
NaV1.2 EFL domain allosterically enhances Ca2+ binding to sites I and II of WT and pathogenic calmodulin mutants bound to the channel CTD.
Mahling R et al.
Structure (london, England : 1993), 2021
The LQT-associated calmodulin mutant E141G induces disturbed Ca2+-dependent binding and a flickering gating mode of the CaV1.2 channel.
Su J et al.
American Journal of Physiology. Cell Physiology, 2020
Impact of arrhythmogenic calmodulin variants on small conductance Ca2+ -activated K+ (SK3) channels.
Saljic A et al.
Physiological Reports, 2019
The Crossroad of Ion Channels and Calmodulin in Disease.
Urrutia J et al.
International Journal of Molecular Sciences, 2019
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.
Shaik NA et al.
Journal of Cellular Biochemistry, 2018
Calcium Signaling and Cardiac Arrhythmias.
Landstrom AP et al.
Circulation Research, 2017
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Yamamoto Y et al.
Human Molecular Genetics, 2017
The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor.
Søndergaard MT et al.
The Journal of Biological Chemistry, 2017
A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.
Limpitikul WB et al.
Circulation Research, 2017
The emerging role of calmodulin regulation of RyR2 in controlling heart rhythm, the progression of heart failure and the antiarrhythmic action of dantrolene.
Walweel K et al.
Clinical and Experimental Pharmacology & Physiology, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.
Gomez-Hurtado N et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
Chaix MA et al.
Heartrhythm Case Reports, 2016
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.
Vassilakopoulou V et al.
Biochimica Et Biophysica Acta, 2015
Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
Limpitikul WB et al.
Journal of Molecular and Cellular Cardiology, 2014
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.
Yin G et al.
Journal of the American Heart Association, 2014
Calmodulin mutations associated with recurrent cardiac arrest in infants.
Crotti L et al.
Circulation, 2013