Human Calmodulin Mutations

Adelman, 2012, Small-conductance Ca 2+-activated K+channels: form and function., Annu. Rev. Physiol., 74, 245, 10.1146/annurev-physiol-020911-153336

Berchtold, 2016, The arrhythmogenic calmodulin mutation D129G dysregulates cell growth, calmodulin-dependent kinase II activity, and cardiac function in zebrafish., J. Biol. Chem., 291, 26636, 10.1074/jbc.M116.758680

Boczek, 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., Circ. Cardiovasc. Genet., 9, 136, 10.1161/CIRCGENETICS.115.001323

Brehm, 1978, Calcium entry leads to inactivation of calcium channel in paramecium., Science., 202, 1203, 10.1126/science.103199

Chaix, 2016, Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy., Hear. case reports, 2, 250, 10.1016/j.hrcr.2016.02.002

Chattopadhyaya, 1992, Calmodulin structure refined at 1.7 a resolution., J. Mol. Biol., 228, 1177, 10.1016/0022-2836(92)90324-D

Clapham, 2007, Calcium signaling., Cell, 131, 1047, 10.1016/j.cell.2007.11.028

Crotti, 2013, Calmodulin mutations associated with recurrent cardiac arrest in infants., circulation, 127, 1009, 10.1161/CIRCULATIONAHA.112.001216

den Dunnen, 2016, HGVS Recommendations for the description of sequence variants: 2016 Update., Hum. Mutat., 37, 564, 10.1002/humu.22981

Fabiato, 1985, Time and calcium dependence of activation and inactivation of calcium-induced release of calcium from the sarcoplasmic reticulum of a skinned canine cardiac purkinje cell., J. Gen. Physiol., 85, 247, 10.1085/jgp.85.2.247

Fischer, 1988, Multiple divergent mRNAs code for a single human calmodulin., J. Biol. Chem., 263, 17055, 10.1016/S0021-9258(18)37497-0

Ghosh, 2006, KCNQ1 assembly and function is blocked by long-QT syndrome mutations that disrupt interaction with calmodulin., Circ. Res., 98, 1048, 10.1161/01.RES.0000218863.44140.f2

Gomez-Hurtado, 2016, Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks., Circ. Arrhythmia Electrophysiol., 9, 10.1161/CIRCEP.116.004161

Halling, 2016, Conserved properties of individual Ca 2+-binding sites in calmodulin., Proc. Natl. Acad. Sci. U.S.A., 113, E1216, 10.1073/pnas.1600385113

Hwang, 2014, Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants., Circ. Res., 114, 1114, 10.1161/CIRCRESAHA.114.303391

Jiménez-Jáimez, 2016, Calmodulin 2 mutation N98S is associated with unexplained cardiac arrest in infants due to low clinical penetrance electrical disorders., PLoS One, 11, 10.1371/journal.pone.0153851

Kretsinger, 1986, Crystal structure of calmodulin., J. Inorg. Biochem., 28, 289, 10.1016/0162-0134(86)80093-9

Landstrom, 2017, Calcium signaling and cardiac arrhythmias., Circ. Res., 120, 1969, 10.1161/CIRCRESAHA.117.310083

Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans., Nature, 536, 285, 10.1038/nature19057

Limpitikul, 2014, Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca2+ currents and promote proarrhythmic behavior in ventricular myocytes., J. Mol. Cell. Cardiol., 74, 115, 10.1016/j.yjmcc.2014.04.022

Limpitikul, 2017, A Precision medicine approach to the rescue of function on malignant calmodulinopathic long-QT syndromenovelty and significance., Circ. Res., 120, 39, 10.1161/CIRCRESAHA.116.309283

Linse, 1991, Calcium binding to calmodulin and its globular domains., J. Biol. Chem., 266, 8050, 10.1016/S0021-9258(18)92938-8

Makita, 2014, Novel calmodulin mutations associated with congenital arrhythmia susceptibility., Circ. Cardiovasc. Genet., 7, 466, 10.1161/CIRCGENETICS.113.000459

Marsman, 2014, A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence., J. Am. Coll. Cardiol., 63, 259, 10.1016/j.jacc.2013.07.091

Modell, 2006, The long QT syndrome family of cardiac ion channelopathies: a huge review., Genet. Med., 8, 143, 10.1097/01.gim.0000204468.85308.86

Nanou, 2018, Calcium channels, synaptic plasticity, and neuropsychiatric disease., Neuron, 98, 466, 10.1016/j.neuron.2018.03.017

Nomikos, 2014, Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death., FEBS Lett., 588, 2898, 10.1016/j.febslet.2014.07.007

Nyegaard, 2010, CACNA1C (rs1006737) is associated with schizophrenia., Mol. Psychiatry, 15, 119, 10.1038/mp.2009.69

Nyegaard, 2012, Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death., Am. J. Hum. Genet., 91, 703, 10.1016/j.ajhg.2012.08.015

O’Connell, 2010, Integrated protein array screening and high throughput validation of 70 novel neural calmodulin-binding proteins., Mol. Cell. Proteomics, 9, 1118, 10.1074/mcp.M900324-MCP200

Peterson, 1999, Calmodulin is the Ca2+ sensor for Ca2+-dependent inactivation of L-type calcium channels., Neuron, 22, 549, 10.1016/S0896-6273(00)80709-6

Pipilas, 2016, Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes., Hear. Rhythm, 13, 2012, 10.1016/j.hrthm.2016.06.038

Reed, 2015, CALM3 mutation associated with long QT syndrome., Hear. Rhythm, 12, 419, 10.1016/j.hrthm.2014.10.035

Rocchetti, 2017, Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes., Cardiovasc. Res., 113, 531, 10.1093/cvr/cvx006

Sasagawa, 1982, Complete amino acid sequence of human brain calmodulin., Biochemistry, 21, 2565, 10.1021/bi00539a041

Shen, 2005, Scanning the human proteome for calmodulin-binding proteins., Proc. Natl. Acad. Sci. U.S.A., 102, 5969, 10.1073/pnas.0407928102

Søndergaard, 2017, The arrhythmogenic calmodulin p.Phe142Leu mutation impairs C-domain Ca 2+ binding but not calmodulin-dependent Inhibition of the cardiac ryanodine receptor., J. Biol. Chem., 292, 1385, 10.1074/jbc.M116.766253

Søndergaard, , Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes., FEBS J., 282, 803, 10.1111/febs.13184

Søndergaard, , Arrhythmogenic calmodulin mutations affect the activation and termination of cardiac ryanodine receptor-mediated Ca 2+ release., J. Biol. Chem., 290, 26151, 10.1074/jbc.M115.676627

Sorensen, 2013, Calmodulin in a heartbeat., FEBS J., 280, 5511, 10.1111/febs.12337

Sun, 2017, Cryo-EM structure of a KCNQ1/CaM complex reveals insights into congenital long QT syndrome., Cell, 169, e9, 10.1016/j.cell.2017.05.019

Takahashi, 2017, A novel de novo calmodulin mutation in a 6-year-old boy who experienced an aborted cardiac arrest., Hear. Case Rep., 3, 69, 10.1016/j.hrcr.2016.09.004

Tidow, 2013, Structural diversity of calmodulin binding to its target sites., FEBS J., 280, 5551, 10.1111/febs.12296

Vassilakopoulou, 2015, Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease., Biochim. Biophys. Acta. Gen. Subj., 1850, 2168, 10.1016/j.bbagen.2015.07.001

Xu, 2004, Mechanism of calmodulin inhibition of cardiac sarcoplasmic reticulum Ca2+ release channel (ryanodine receptor)., Biophys. J., 86, 797, 10.1016/S0006-3495(04)74155-7

Yamamoto, 2017, Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation., Hum. Mol. Genet., 26, 1670, 10.1093/hmg/ddx073

Yin, 2014, Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms., J. Am. Heart Assoc., 3, 10.1161/JAHA.114.000996

Yu, 2016, Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current., Hear. Rhythm, 13, 1716, 10.1016/j.hrthm.2016.05.009