Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.
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Emerging directions in the genetics of atrial fibrillationThe junctophilin family of proteins: from bench to bedsideGenomic Contributors to Rhythm Outcome of Atrial Fibrillation Catheter Ablation - Pathway Enrichment Analysis of GWAS DataGenomic contributors to atrial electroanatomical remodeling and atrial fibrillation progression: Pathway enrichment analysis of GWAS data.Role of RyR2 phosphorylation in heart failure and arrhythmias: Controversies around ryanodine receptor phosphorylation in cardiac disease.Regulation of Cardiomyocyte T-Tubular Structure: Opportunities for Therapy.Reduced junctional Na+/Ca2+-exchanger activity contributes to sarcoplasmic reticulum Ca2+ leak in junctophilin-2-deficient mice.Loss of microRNA-106b-25 cluster promotes atrial fibrillation by enhancing ryanodine receptor type-2 expression and calcium release.Cellular and molecular mechanisms of atrial arrhythmogenesis in patients with paroxysmal atrial fibrillation.Downregulation of connexin43 by microRNA-130a in cardiomyocytes results in cardiac arrhythmias.Identification of microRNA-mRNA dysregulations in paroxysmal atrial fibrillation.Progress toward the prevention and treatment of atrial fibrillation: A summary of the Heart Rhythm Society Research Forum on the Treatment and Prevention of Atrial Fibrillation, Washington, DC, December 9-10, 2013.Smooth Muscle Cell Genome Browser: Enabling the Identification of Novel Serum Response Factor Target Genes.Ryanodine receptor cluster fragmentation and redistribution in persistent atrial fibrillation enhance calcium release.Critical roles of junctophilin-2 in T-tubule and excitation-contraction coupling maturation during postnatal developmentCa²⁺ microdomains organized by junctophilinsNovel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases.Organization of junctional sarcoplasmic reticulum proteins in skeletal muscle fibers.Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.Serine/Threonine Phosphatases in Atrial Fibrillation.Current controversies in determining the main mechanisms of atrial fibrillation.Calcium-mediated cellular triggered activity in atrial fibrillation.Calcium Signaling and Cardiac Arrhythmias.Junctophilin-2 gene therapy rescues heart failure by normalizing RyR2-mediated Ca2+ release.Modeling Na+-Ca2+ exchange in the heart: Allosteric activation, spatial localization, sparks and excitation-contraction coupling.Ca(2+) leak in atrial fibrillation: junctophilin-2 stabilizes ryanodine receptor.Junctophilin-2 at the intersection of arrhythmia and pathologic cardiac remodelingThe Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.Junctophilin-2 in the nanoscale organisation and functional signalling of ryanodine receptor clusters in cardiomyocytes.SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity.True Molecular Scale Visualization of Variable Clustering Properties of Ryanodine Receptors.Ion channels as part of macromolecular multiprotein complexes : Clinical significance.Functional interaction of Junctophilin 2 with small- conductance Ca2+ -activated potassium channel subtype 2(SK2) in mouse cardiac myocytes.Reduction of SR Ca2+ leak and arrhythmogenic cellular correlates by SMP-114, a novel CaMKII inhibitor with oral bioavailability.Highly variable contractile performance correlates with myocyte content in trabeculae from failing human hearts.Age-dependent Increase in JNK2 Activity: Does This Help to Understand CaMKII-mediated Atrial Arrhythmogenesis in Human Atrial Fibrillation?Variable t-tubule organization and Ca2+ homeostasis across the atria.Atrial Structural Remodeling Gene Variants in Patients with Atrial FibrillationProfibrotic, Electrical, and Calcium-Handling Remodeling of the Atria in Heart Failure Patients With and Without Atrial Fibrillation
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Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 21 August 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutation E169K in junctophilin ...... o impaired RyR2 stabilization.
@en
Mutation E169K in junctophilin ...... o impaired RyR2 stabilization.
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type
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Mutation E169K in junctophilin ...... o impaired RyR2 stabilization.
@en
Mutation E169K in junctophilin ...... o impaired RyR2 stabilization.
@nl
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Mutation E169K in junctophilin ...... o impaired RyR2 stabilization.
@en
Mutation E169K in junctophilin ...... o impaired RyR2 stabilization.
@nl
P2093
P2860
P50
P1476
Mutation E169K in junctophilin ...... to impaired RyR2 stabilization
@en
P2093
David L Beavers
Dobromir Dobrev
Iacopo Olivotto
Michael J Ackerman
Niels Voigt
Qiongling Wang
Sayali S Dixit
P2860
P304
P356
10.1016/J.JACC.2013.06.052
P407
P577
2013-08-21T00:00:00Z