Associated Papers
Functional consequences of calmodulin variants identified among schizophrenia patients and controls.
Jensen HH et al.
Translational Psychiatry, 2025
The mechanism of LQTS related CaM mutation E141G interfering with CaV1.2 channels function through its C-lobe.
Zhang C et al.
Journal of Physiology and Biochemistry, 2025
Divergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.
Da'as SI et al.
Journal of Cellular Biochemistry, 2024
Single Construct Suppression and Replacement Gene Therapy for the Treatment of All CALM1-, CALM2-, and CALM3-Mediated Arrhythmia Disorders.
Hamrick SK et al.
Circulation. Arrhythmia and Electrophysiology, 2024
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
Calmodulin Mutations in Human Disease.
Hussey JW et al.
Channels (austin, Tex.), 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
Jensen HH et al.
Human Molecular Genetics, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.
Keefe JA et al.
Archives of Toxicology, 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
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
Calmodulinopathies: throwing back the veil on the newest life-threatening genetic arrhythmia syndrome.
Etheridge SP et al.
Current Opinion in Cardiology, 2021
Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation.
Ledford HA et al.
The Journal of General Physiology, 2020
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
Diminished inhibition and facilitated activation of RyR2-mediated Ca2+ release is a common defect of arrhythmogenic calmodulin mutations.
Søndergaard MT et al.
The Febs Journal, 2019
Impact of arrhythmogenic calmodulin variants on small conductance Ca2+ -activated K+ (SK3) channels.
Saljic A et al.
Physiological Reports, 2019
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Crotti L et al.
European Heart Journal, 2019
Genetic Mosaicism in Calmodulinopathy.
Wren LM et al.
Circulation. Genomic and Precision Medicine, 2019
Arrhythmogenic calmodulin E105A mutation alters cardiac RyR2 regulation leading to cardiac dysfunction in zebrafish.
Da'as SI et al.
Annals of the New York Academy of Sciences, 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
Human Calmodulin Mutations.
Jensen HH et al.
Frontiers in Molecular Neuroscience, 2018
Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young.
Kotta MC et al.
Frontiers in Cardiovascular Medicine, 2018
Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical Phenotypes.
Badone B et al.
Frontiers in Cardiovascular Medicine, 2018
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
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
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
Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.
Chaix MA et al.
Heartrhythm Case Reports, 2016
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek NJ et al.
Circulation. Cardiovascular Genetics, 2016
Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.
Vassilakopoulou V et al.
Biochimica Et Biophysica Acta, 2015
Diseases caused by mutations in Nav1.5 interacting proteins.
Kyle JW et al.
Cardiac Electrophysiology Clinics, 2014
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
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N et al.
Circulation. Cardiovascular Genetics, 2014
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.
Yin G et al.
Journal of the American Heart Association, 2014
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
Marsman RF et al.
Journal of the American College of Cardiology, 2014
Calmodulin mutations associated with recurrent cardiac arrest in infants.
Crotti L et al.
Circulation, 2013
Calmodulinopathy in inherited arrhythmia syndromes.
Tsai WC et al.
Tzu Chi Medical Journal, 0