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References from Disease models and AAV therapies of PKP2-induced arrhythmogenic cardiomyopathy. Local targets link to admitted publications; unresolved targets remain external evidence.
Right Ventricular Cardiomyopathy and Sudden Death in Young People
10.1056/nejm198801213180301 · 1988 · External reference
Arrhythmogenic Right Ventricular Cardiomyopathy
10.1161/01.cir.94.5.983 · 1996 · External reference
Left ventricular fibro-fatty replacement in arrhythmogenic right ventricular dysplasia/cardiomyopathy: prevalence, patterns, and association with arrhythmias
10.1186/s12968-020-00702-3 · 2021 · External reference
Fat infiltration in the infarcted heart as a paradigm for ventricular arrhythmias
10.1038/s44161-022-00133-6 · 2022 · External reference
A 3D high resolution MRI method for the visualization of cardiac fibro-fatty infiltrations
10.1038/s41598-021-85774-6 · 2021 · External reference
Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital
10.1016/j.ijcard.2003.10.037 · 2004 · External reference
Sudden Unexpected Death Associated with Arrhythmogenic Cardiomyopathy: Study of the Cardiac Conduction System
10.3390/diagnostics11081323 · 2021 · External reference
Arrhythmogenic Cardiomyopathy
10.1161/circresaha.117.309345 · 2017 · External reference
Unresolved reference
External reference
Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program
10.1001/jama.296.13.1593 · 2006 · External reference
The intercalated disc: a unique organelle for electromechanical synchrony in cardiomyocytes
10.1152/physrev.00021.2022 · 2023 · External reference
Mitochondrial Dysfunction as Substrate for Arrhythmogenic Cardiomyopathy: A Search for New Disease Mechanisms
10.3389/fphys.2019.01496 · 2019 · External reference
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
10.1161/circgen.122.003704 · 2022 · External reference
Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement
10.1161/circulationaha.115.017944 · 2015 · External reference
New insights into the generation and role of de novo mutations in health and disease
10.1186/s13059-016-1110-1 · 2016 · External reference
Arrhythmogenic cardiomyopathy: diagnosis, genetic background, and risk management
10.1007/s12471-014-0563-7 · 2014 · External reference
Arrhythmogenic cardiomyopathy: pathogenesis, pro-arrhythmic remodelling, and novel approaches for risk stratification and therapy
10.1093/cvr/cvaa084 · 2020 · External reference
Physical Exercise and Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An Overview
10.4103/heartviews.heartviews_70_22 · 2022 · External reference
Running the Risk: Exercise and Arrhythmogenic Cardiomyopathy
10.1007/s11936-021-00943-0 · 2021 · External reference
ESC Guidelines on sports cardiology and exercise in patients with cardiovascular disease
10.1093/eurheartj/ehaa605 · 2020 · External reference
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy
10.1016/j.jacc.2006.06.045 · 2006 · External reference
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy
10.1161/circulationaha.119.044934 · 2020 · External reference
DSP p.(Thr2104Glnfs∗12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
10.1186/s12881-020-0955-z · 2020 · External reference
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
10.1136/jmedgenet-2021-107911 · 2022 · External reference
A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report
2021 · External reference
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
10.1136/jmg-2023-109493 · 2023 · External reference
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation
10.1371/journal.pone.0189489 · 2017 · External reference
PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients
2018 · External reference
Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation
10.1111/ahg.12193 · 2017 · External reference
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia
10.1002/ejhf.1423 · 2019 · External reference
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
10.1002/humu.9461 · 2006 · External reference
Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome
10.1161/circgen.118.002397 · 2018 · External reference
Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome
10.1016/j.febslet.2014.02.008 · 2014 · External reference
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype
10.1161/circulationaha.113.003077 · 2014 · External reference
Genetics of Brugada syndrome
10.1016/j.joa.2016.07.012 · 2016 · External reference
Evolving Diagnostic Criteria for Arrhythmogenic Cardiomyopathy
10.1161/jaha.121.021987 · 2021 · External reference
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis
10.1093/cvr/cvx150 · 2017 · External reference
The desmosome
10.1101/cshperspect.a002543 · 2009 · External reference
Desmosome structure, composition and function
10.1016/j.bbamem.2007.07.014 · 2008 · External reference
Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy
10.1136/hrt.2010.205880 · 2011 · External reference
Arrhythmogenic Right Ventricular Cardiomyopathy Plakophilin-2 Mutations Disrupt Desmosome Assembly and Stability
10.1080/15419060903009329 · 2009 · External reference
Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling
10.1074/jbc.m108765200 · 2002 · External reference
Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization
10.1126/sciadv.abh3995 · 2021 · External reference
Sudden Cardiac Death Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Collaboration
10.1161/circep.120.008509 · 2021 · External reference
Haploinsufficiency and telomere length homeostasis
2012 · External reference
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation
10.1083/jcb.200402096 · 2004 · External reference
Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency
10.1093/cvr/cvs218 · 2012 · External reference
Plakophilin-2 Haploinsufficiency Causes Calcium Handling Deficits and Modulates the Cardiac Response Towards Stress
10.3390/ijms20174076 · 2019 · External reference
Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy
10.1161/circulationaha.120.049261 · 2022 · External reference
Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm
10.1038/s41467-017-00127-0 · 2017 · External reference
Disruption of Ca2+i Homeostasis and Connexin 43 Hemichannel Function in the Right Ventricle Precedes Overt Arrhythmogenic Cardiomyopathy in Plakophilin-2-Deficient Mice
10.1161/circulationaha.119.039710 · 2019 · External reference
Role of plakophilin-2 expression on exercise-related progression of arrhythmogenic right ventricular cardiomyopathy: a translational study
10.1093/eurheartj/ehab772 · 2022 · External reference
Blockade of the Adenosine 2A Receptor Mitigates the Cardiomyopathy Induced by Loss of Plakophilin-2 Expression
10.3389/fphys.2018.01750 · 2018 · External reference
Exercise Causes Arrhythmogenic Remodeling of Intracellular Calcium Dynamics in Plakophilin-2-Deficient Hearts
10.1161/circulationaha.121.057757 · 2022 · External reference
Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model
10.1093/hmg/ddw213 · 2016 · External reference
Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy
10.1126/scitranslmed.add4248 · 2023 · External reference
Beneficial effect of voluntary physical exercise in Plakophilin2 transgenic mice
10.1371/journal.pone.0252649 · 2021 · External reference
Exercise Triggers ARVC Phenotype in Mice Expressing a Disease-Causing Mutated Version of Human Plakophilin-2
10.1016/j.jacc.2015.01.045 · 2015 · External reference
Loss of plakophilin 2 disrupts heart development in zebrafish
10.1387/ijdb.113390mm · 2012 · External reference
AAV-Mediated Delivery of Plakophilin-2a Arrests Progression of Arrhythmogenic Right Ventricular Cardiomyopathy in Murine Hearts: Preclinical Evidence Supporting Gene Therapy in Humans
10.1161/circgen.123.004305 · 2024 · External reference
Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy
10.1038/s44161-023-00378-9 · 2023 · External reference
Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics
10.1038/s44161-023-00370-3 · 2023 · External reference
Transcriptomic Coupling of PKP2 With Inflammatory and Immune Pathways Endogenous to Adult Cardiac Myocytes
2020 · External reference
AAV9:PKP2 improves heart function and survival in a Pkp2-deficient mouse model of arrhythmogenic right ventricular cardiomyopathy
10.1038/s43856-024-00450-w · 2024 · External reference
Fibrosis in Arrhythmogenic Cardiomyopathy: The Phantom Thread in the Fibro-Adipose Tissue
10.3389/fphys.2020.00279 · 2020 · External reference
Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes
10.1084/jem.2133oia12 · 2016 · External reference
The role of mouse strain differences in the susceptibility to fibrosis: a systematic review
10.1186/1755-1536-6-18 · 2013 · External reference
Extracellular matrix remodeling and cardiac fibrosis
10.1016/j.matbio.2018.01.013 · 2018 · External reference
Connexin43 Remodeling Caused by Inhibition of Plakophilin-2 Expression in Cardiac Cells
10.1161/circresaha.107.154252 · 2007 · External reference
Knock Down of Plakophillin 2 Dysregulates Adhesion Pathway through Upregulation of miR200b and Alters the Mechanical Properties in Cardiac Cells
10.3390/cells8121639 · 2019 · External reference
Plakophilin-2: a cell-cell adhesion plaque molecule of selective and fundamental importance in cardiac functions and tumor cell growth
10.1007/s00441-011-1314-3 · 2012 · External reference
Robotic manipulation of cardiomyocytes to identify gap junction modifiers for arrhythmogenic cardiomyopathy
10.1126/scirobotics.adm8233 · 2024 · External reference
Cardiomyocyte and stromal cell cross-talk influences the pathogenesis of arrhythmogenic cardiomyopathy: a multi-level analysis uncovers DLK1-NOTCH pathway role in fibro-adipose remodelling
10.1038/s41420-024-02232-8 · 2024 · External reference
Loss of plakophilin-2 expression leads to decreased sodium current and slower conduction velocity in cultured cardiac myocytes
10.1161/circresaha.109.201418 · 2009 · External reference
Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations
10.1016/j.hrthm.2008.09.009 · 2008 · External reference
Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc
10.1161/circresaha.111.247023 · 2011 · External reference
Relative contribution of changes in sodium current versus intercellular coupling on reentry initiation in 2-dimensional preparations of plakophilin-2-deficient cardiac cells
10.1016/j.hrthm.2011.06.029 · 2011 · External reference
Induced pluripotent stem cells: at the heart of cardiovascular precision medicine
10.1038/nrcardio.2016.36 · 2016 · External reference
Understanding pluripotency--how embryonic stem cells keep their options open
10.1093/molehr/gan048 · 2008 · External reference
Modeling of Arrhythmogenic Right Ventricular Cardiomyopathy With Human Induced Pluripotent Stem Cells
10.1161/circgenetics.113.000188 · 2013 · External reference
Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes
10.1016/j.stemcr.2021.12.016 · 2022 · External reference
Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy
10.1093/eurheartj/ehs226 · 2013 · External reference
Human-iPSC-Derived Cardiac Stromal Cells Enhance Maturation in 3D Cardiac Microtissues and Reveal Non-cardiomyocyte Contributions to Heart Disease
10.1016/j.stem.2020.05.004 · 2020 · External reference
Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
10.1038/nature11799 · 2013 · External reference
Engineered tissue geometry and Plakophilin-2 regulate electrophysiology of human iPSC-derived cardiomyocytes
10.1063/5.0160677 · 2024 · External reference
Transcriptomic Characterization of a Human In Vitro Model of Arrhythmogenic Cardiomyopathy Under Topological and Mechanical Stimuli
10.1007/s10439-018-02134-8 · 2019 · External reference
Adipocyte-Mediated Electrophysiological Remodeling of PKP-2 Mutant Human Pluripotent Stem Cell-Derived Cardiomyocytes
10.3390/biomedicines12112601 · 2024 · External reference
Epicardial differentiation drives fibro-fatty remodeling in arrhythmogenic cardiomyopathy
10.1126/scitranslmed.abf2750 · 2021 · External reference
A potential link between peroxisome proliferator-activated receptor signalling and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy
10.1093/cvr/cvp183 · 2009 · External reference
Ca2+ dysregulation in cardiac stromal cells sustains fibro-adipose remodeling in Arrhythmogenic Cardiomyopathy and can be modulated by flecainide
10.1186/s12967-022-03742-8 · 2022 · External reference
Omics Analyses of Stromal Cells from ACM Patients Reveal Alterations in Chromatin Organization and Mitochondrial Homeostasis
10.3390/ijms241210017 · 2023 · External reference
Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy
10.1093/eurheartj/ehv579 · 2016 · External reference
Mechanistic basis of desmosome-targeted diseases
10.1016/j.jmb.2013.07.035 · 2013 · External reference
Barriers in Heart Failure Gene Therapy and Approaches to Overcome Them
10.1016/j.hlc.2023.02.011 · 2023 · External reference
Emerging Issues in AAV-Mediated In Vivo Gene Therapy
10.1016/j.omtm.2017.11.007 · 2018 · External reference