Associated Papers
Disrupted binding dynamics of the CaMD130G mutant to Cav1.2 channels: Implications for long QT syndrome pathogenesis.
Zhang X et al.
European Journal of Pharmacology, 2025
Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.
Tsai WC et al.
Jci Insight, 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
Calmodulin Mutations in Human Disease.
Hussey JW et al.
Channels (austin, Tex.), 2023
Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant.
Wong LCH et al.
Heartrhythm Case Reports, 2023
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Crotti L et al.
European Heart Journal, 2023
Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket.
Thanassoulas A et al.
Biochimica Et Biophysica Acta. General Subjects, 2023
Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Yu Y et al.
Expert Reviews in Molecular Medicine, 2023
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
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
Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy.
Fujita S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2019
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.
Shaik NA et al.
Journal of Cellular Biochemistry, 2018
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 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
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
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Makita N et al.
Circulation. Cardiovascular Genetics, 2014
The link between abnormalities of calcium handling proteins and catecholaminergic polymorphic ventricular tachycardia.
Lin DJ et al.
Tzu Chi Medical Journal, 0
Calmodulinopathy in inherited arrhythmia syndromes.
Tsai WC et al.
Tzu Chi Medical Journal, 0