Associated Papers
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
37872640 (PubMed )
Supplement: 13073_2023_1246_MOESM2_ESM.docx
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
37066275 (PubMed )
Supplement: media-4.docx
The arrhythmogenic N53I variant subtly changes the structure and dynamics in the calmodulin N-terminal domain, altering its interaction with the cardiac ryanodine receptor.
Holt C et al.
The Journal of Biological Chemistry, 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
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.
Shaik NA et al.
Journal of Cellular Biochemistry, 2018
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
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
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
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