Human Calmodulin Mutations

Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease

(2018) Evanthia Nanou et al.   NEURON

Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation

(2017) Yuta Yamamoto et al.   HUMAN MOLECULAR GENETICS

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT SyndromeNovelty and Significance

(2016) Worawan B. Limpitikul et al.   CIRCULATION RESEARCH

Novel CPVT-Associated Calmodulin Mutation inCALM3(CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

(2016) Nieves Gomez-Hurtado et al.   Circulation-Arrhythmia and Electrophysiology

Spectrum and Prevalence ofCALM1-,CALM2-, andCALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GCLINICAL PERSPECTIVE

(2016) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current

(2016) Chih-Chieh Yu et al.   HEART RHYTHM

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes

(2016) Daniel C. Pipilas et al.   HEART RHYTHM

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

The Arrhythmogenic Calmodulin Mutation D129G Dysregulates Cell Growth, Calmodulin-dependent Kinase II Activity, and Cardiac Function in Zebrafish

(2016) Martin W. Berchtold et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine Receptor

(2016) Mads Toft Søndergaard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Conserved properties of individual Ca2+-binding sites in calmodulin

(2016) D. Brent Halling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spectrum and Prevalence ofCALM1-,CALM2-, andCALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GCLINICAL PERSPECTIVE

(2016) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders

(2016) Juan Jiménez-Jáimez et al.   PLoS One

Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease

(2015) Vyronia Vassilakopoulou et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes

(2015) Mads T. Søndergaard et al.   FEBS Journal

CALM3 mutation associated with long QT syndrome

(2015) Griffin J. Reed et al.   HEART RHYTHM

Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+Release

(2015) Mads T. Søndergaard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Divergent Regulation of Ryanodine Receptor 2 Calcium Release Channels by Arrhythmogenic Human Calmodulin Missense Mutants

(2014) Hyun Seok Hwang et al.   CIRCULATION RESEARCH

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

(2014) N. Makita et al.   Circulation-Cardiovascular Genetics

Altered RyR2 regulation by the calmodulin F90L mutation associated with idiopathic ventricular fibrillation and early sudden cardiac death

(2014) Michail Nomikos et al.   FEBS LETTERS

Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca2+ currents and promote proarrhythmic behavior in ventricular myocytes

(2014) Worawan B. Limpitikul et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Arrhythmogenic Calmodulin Mutations Disrupt Intracellular Cardiomyocyte Ca 2+ Regulation by Distinct Mechanisms

(2014) Guo Yin et al.   Journal of the American Heart Association

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

(2013) Lia Crotti et al.   CIRCULATION

Calmodulin in a Heartbeat

(2013) Anders B. Sorensen et al.   FEBS Journal

Structural diversity of calmodulin binding to its target sites

(2013) Henning Tidow et al.   FEBS Journal

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

(2013) Roos F. Marsman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

(2012) Mette Nyegaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Small-Conductance Ca2+-Activated K+ Channels: Form and Function

(2011) John P. Adelman et al.   Annual Review of Physiology

Integrated Protein Array Screening and High Throughput Validation of 70 Novel Neural Calmodulin-binding Proteins

(2010) David J. O'Connell et al.   MOLECULAR & CELLULAR PROTEOMICS

CACNA1C (rs1006737) is associated with schizophrenia

(2010) M Nyegaard et al.   MOLECULAR PSYCHIATRY