Desmosomes in the Heart: A Review of Clinical and Mechanistic Analyses

Plakophilin-3 Catenin Associates with the ETV1/ER81 Transcription Factor to Positively Modulate Gene Activity

(2014) William A. Munoz et al.   PLoS One

Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque

(2013) Esperanza Agullo-Pascual et al.   CARDIOVASCULAR RESEARCH

Structural and Functional Diversity of Desmosomes

(2013) Robert M. Harmon et al.   CELL COMMUNICATION AND ADHESION

Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype

(2013) Marina Cerrone et al.   CIRCULATION

The Hippo Pathway Is Activated and Is a Causal Mechanism for Adipogenesis in Arrhythmogenic Cardiomyopathy

(2013) Suet Nee Chen et al.   CIRCULATION RESEARCH

Modeling of Arrhythmogenic Right Ventricular Cardiomyopathy With Human Induced Pluripotent Stem Cells

(2013) Oren Caspi et al.   Circulation-Cardiovascular Genetics

The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death

(2013) Andreas Brodehl et al.   Circulation-Cardiovascular Genetics

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

(2013) Ilaria Rigato et al.   Circulation-Cardiovascular Genetics

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

(2013) Ilena Egle Astrid Li Mura et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

(2013) Berivan Baskin et al.   HUMAN GENETICS

Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model

(2013) Robert C. Lyon et al.   HUMAN MOLECULAR GENETICS

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing

(2013) Hung-Fat Tse et al.   HUMAN MOLECULAR GENETICS

Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy

(2013) Torsten B. Rasmussen et al.   HUMAN MUTATION

Mutation-Positive Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: The Triangle of Dysplasia Displaced

(2013) ANNELINE S.J.M. TE RIELE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Plakophilin 2 Affects Cell Migration by Modulating Focal Adhesion Dynamics and Integrin Protein Expression

(2013) Jennifer L. Koetsier et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mechanistic Basis of Desmosome-Targeted Diseases

(2013) Caezar Al-Jassar et al.   JOURNAL OF MOLECULAR BIOLOGY

Structural and Functional Studies on the Interaction of Adenovirus Fiber Knobs and Desmoglein 2

(2013) H. Wang et al.   JOURNAL OF VIROLOGY

Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs

(2013) Changsung Kim et al.   NATURE

Recurrent and founder mutations in the Netherlands—Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy

(2013) P. A. van der Zwaag et al.   Netherlands Heart Journal

Desminopathies: pathology and mechanisms

(2012) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

(2012) Alessandra Lorenzon et al.   AMERICAN JOURNAL OF CARDIOLOGY

Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/β-catenin signaling pathway in human lung cancer

(2012) Linlin Yang et al.   CARCINOGENESIS

Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation

(2012) Jasper J. van der Smagt et al.   CARDIOLOGY

Connexin43 ablation in foetal atrial myocytes decreases electrical coupling, partner connexins, and sodium current

(2012) Thomas Desplantez et al.   CARDIOVASCULAR RESEARCH

Intercalated disc abnormalities, reduced Na+ current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes

(2012) Stefania Rizzo et al.   CARDIOVASCULAR RESEARCH

Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency

(2012) Marina Cerrone et al.   CARDIOVASCULAR RESEARCH

Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases

(2012) Steffen Rickelt et al.   CELL AND TISSUE RESEARCH

Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense Mutations

(2012) Florian Kirchner et al.   Circulation-Cardiovascular Genetics

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

(2012) TB Rasmussen et al.   CLINICAL GENETICS

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

(2012) Annika F.M. Haywood et al.   EUROPEAN HEART JOURNAL

Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy

(2012) Dongrui Ma et al.   EUROPEAN HEART JOURNAL

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study

(2012) John Gomes et al.   EUROPEAN HEART JOURNAL

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

(2012) Jolanda van Hengel et al.   EUROPEAN HEART JOURNAL

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

(2012) Carola Hedberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Left-dominant arrhythmogenic cardiomyopathy in a large family: Associated desmosomal or nondesmosomal genotype?

(2012) Judith A. Groeneweg et al.   HEART RHYTHM

Expression of HGF, MMP-9 and TGF-β1 in the CSF and cerebral tissue of adult rats with hydrocephalus

(2012) Shaolin Zhang et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Lack of Plakoglobin in Epidermis Leads to Keratoderma

(2012) Deqiang Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The C-terminal unique region of desmoglein 2 inhibits its internalization via tail–tail interactions

(2012) Jing Chen et al.   JOURNAL OF CELL BIOLOGY

Loss of αT-catenin alters the hybrid adhering junctions in the heart and leads to dilated cardiomyopathy and ventricular arrhythmia following acute ischemia

(2012) Jifen Li et al.   JOURNAL OF CELL SCIENCE

In Vitro Functional Analyses of Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmoglein-2-Missense Variations

(2012) Anna Gaertner et al.   PLoS One

Desmin-related cardiomyopathy: an unfolding story

(2011) Patrick M. McLendon et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Desmoglein 2 mutant mice develop cardiac fibrosis and dilation

(2011) Claudia A. Krusche et al.   BASIC RESEARCH IN CARDIOLOGY

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

(2011) F.J.D. Smith et al.   BRITISH JOURNAL OF DERMATOLOGY

Plakophilin-2 and the migration, differentiation and transformation of cells derived from the epicardium of neonatal rat hearts

(2011) Stephanie A. Matthes et al.   CELL COMMUNICATION AND ADHESION

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2011) Moniek G.P.J. Cox et al.   CIRCULATION

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

PKP2 Mutations in Sudden Death From Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Sudden Unexpected Death With Negative Autopsy (SUDNA)

(2011) Mingchang Zhang et al.   CIRCULATION JOURNAL

Interactions Between Ankyrin-G, Plakophilin-2, and Connexin43 at the Cardiac Intercalated Disc

(2011) Priscila Y. Sato et al.   CIRCULATION RESEARCH

Nuclear Plakoglobin Is Essential for Differentiation of Cardiac Progenitor Cells to Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Raffaella Lombardi et al.   CIRCULATION RESEARCH

Altered Desmosomal Proteins in Granulomatous Myocarditis and Potential Pathogenic Links to Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Angeliki Asimaki et al.   Circulation-Arrhythmia and Electrophysiology

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy

(2011) AH Christensen et al.   CLINICAL GENETICS

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Imaging of programmed cell death in arrhythmogenic right ventricle cardiomyopathy/dysplasia

(2011) Maria E. Campian et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy

(2011) M.K. Larsen et al.   FORENSIC SCIENCE INTERNATIONAL

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions

(2011) Katja Gehmlich et al.   HEART RHYTHM

Reduced heterogeneous expression of Cx43 results in decreased Nav1.5 expression and reduced sodium current that accounts for arrhythmia vulnerability in conditional Cx43 knockout mice

(2011) John A. Jansen et al.   HEART RHYTHM

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy

(2011) Deqiang Li et al.   HUMAN MOLECULAR GENETICS

Cellular mechanisms of cardiomyopathy

(2011) Pamela A. Harvey et al.   JOURNAL OF CELL BIOLOGY

The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments

(2011) G. M. Conover et al.   JOURNAL OF CELL SCIENCE

Crystal Structure of a Rigid Four-Spectrin-Repeat Fragment of the Human Desmoplakin Plakin Domain

(2011) Hee-Jung Choi et al.   JOURNAL OF MOLECULAR BIOLOGY

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Multimerization of Adenovirus Serotype 3 Fiber Knob Domains Is Required for Efficient Binding of Virus to Desmoglein 2 and Subsequent Opening of Epithelial Junctions

(2011) H. Wang et al.   JOURNAL OF VIROLOGY

Cardiac Tissue-Restricted Deletion of Plakoglobin Results in Progressive Cardiomyopathy and Activation of  -Catenin Signaling

(2011) J. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

Pathophysiology of arrhythmogenic cardiomyopathy

(2011) Cristina Basso et al.   Nature Reviews Cardiology

Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis

(2011) Cory L. Simpson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart

(2010) M.C. Bolling et al.   BRITISH JOURNAL OF DERMATOLOGY

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

(2010) Katja Gehmlich et al.   CARDIOVASCULAR RESEARCH

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies

(2010) Mario Delmar et al.   CIRCULATION RESEARCH

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

Desmin-related myopathy

(2010) KY van Spaendonck-Zwarts et al.   CLINICAL GENETICS

The area composita of adhering junctions connecting heart muscle cells of vertebrates. VII. The different types of lateral junctions between the special cardiomyocytes of the conduction system of ovine and bovine hearts

(2010) Sebastian Pieperhoff et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Assessment of inflammation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2010) Maria E. Campian et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCα signaling

(2010) Ryan P. Hobbs et al.   FASEB JOURNAL

Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2010) D. Corrado et al.   HEART

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

(2010) Ellen Otten et al.   HEART RHYTHM

Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

(2010) Katja Gehmlich et al.   HEART RHYTHM

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

Plakoglobin regulates cell motility through Rho- and fibronectin-dependent Src signaling

(2010) V. Todorovic et al.   JOURNAL OF CELL SCIENCE

A New Hypo/Oligodontia Syndrome

(2010) L. Chalabreysse et al.   JOURNAL OF DENTAL RESEARCH

From Cell Signaling to Novel Therapeutic Concepts: International Pemphigus Meeting on Advances in Pemphigus Research and Therapy

(2010) Spiro Getsios et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

(2010) Ryan P. Hobbs et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A novel kind of tumor type-characteristic junction: plakophilin-2 as a major protein of adherens junctions in cardiac myxomata

(2010) Steffen Rickelt et al.   MODERN PATHOLOGY

Plakophilin 2 Couples Actomyosin Remodeling to Desmosomal Plaque Assembly via RhoA

(2010) Lisa M. Godsel et al.   MOLECULAR BIOLOGY OF THE CELL

Desmoglein 2 is a receptor for adenovirus serotypes 3, 7, 11 and 14

(2010) Hongjie Wang et al.   NATURE MEDICINE

Autoimmune and infectious skin diseases that target desmogleins

(2010) Masayuki AMAGAI   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?

(2009) Alex Hørby Christensen et al.   CARDIOLOGY

Genetic Fate Mapping Identifies Second Heart Field Progenitor Cells As a Source of Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy

(2009) Raffaella Lombardi et al.   CIRCULATION RESEARCH

Loss of Plakophilin-2 Expression Leads to Decreased Sodium Current and Slower Conduction Velocity in Cultured Cardiac Myocytes

(2009) Priscila Y. Sato et al.   CIRCULATION RESEARCH

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare “disease of the desmosome” with multiple clinical presentations

(2009) Thomas Herren et al.   Clinical Research in Cardiology

Plakophilins: multifunctional scaffolds for adhesion and signaling

(2009) Amanda E Bass-Zubek et al.   CURRENT OPINION IN CELL BIOLOGY

Acute episode of an arrhythmogenic right ventricular cardiomyopathy with vast necroses exclusively in right ventricular myocardium

(2009) Stefan Gattenlöhner et al.   EUROPEAN HEART JOURNAL

Skin and heart: une liaison dangereuse

(2009) Maria C. Bolling et al.   EXPERIMENTAL DERMATOLOGY

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

(2009) J. Peter van Tintelen et al.   HEART RHYTHM

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2009) Paul A. van der Zwaag et al.   HUMAN MUTATION

“IF-pathies”: a broad spectrum of intermediate filament–associated diseases

(2009) M. Bishr Omary   JOURNAL OF CLINICAL INVESTIGATION

Myocyte necrosis underlies progressive myocardial dystrophy in mousedsg2-related arrhythmogenic right ventricular cardiomyopathy

(2009) Kalliopi Pilichou et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

(2009) My G. Mahoney et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Arrhythmogenic right ventricular cardiomyopathy

(2009) Cristina Basso et al.   LANCET

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

(2009) Angeliki Asimaki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Connexin 43 and plakophilin-2 as a protein complex that regulates blood-testis barrier dynamics

(2009) M. W. M. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Desmosome

(2009) E. Delva et al.   Cold Spring Harbor Perspectives in Biology

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The 2006 American Heart Association Classification of Cardiomyopathies Is Not the Gold Standard

(2008) Perry Elliott   Circulation-Heart Failure

Serological Evidence for the Association ofBartonella henselaeInfection with Arrhythmogenic Right Ventricular Cardiomyopathy

(2008) Andreas H. Fischer et al.   CLINICAL CARDIOLOGY

The area composita of adhering junctions connecting heart muscle cells of vertebrates. V. The importance of plakophilin-2 demonstrated by small interference RNA-mediated knockdown in cultured rat cardiomyocytes

(2008) Sebastian Pieperhoff et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

The area composita of adhering junctions connecting heart muscle cells of vertebrates.

(2008) Sebastian Pieperhoff et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization

(2008) Manolis Mavroidis et al.   FASEB JOURNAL

Markedly increased intracellular lipid droplets and disruption of intercellular junctions in biopsied myocardium from a patient with arrhythmogenic right ventricular cardiomyopathy

(2008) Shuichi Fujita et al.   HEART AND VESSELS

Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations

(2008) Rosy Joshi-Mukherjee et al.   HEART RHYTHM

The desmosome and pemphigus

(2008) Jens Waschke   HISTOCHEMISTRY AND CELL BIOLOGY

Plakophilin 2: a critical scaffold for PKCα that regulates intercellular junction assembly

(2008) Amanda E. Bass-Zubek et al.   JOURNAL OF CELL BIOLOGY

LUMA interacts with emerin and influences its distribution at the inner nuclear membrane

(2008) Luiza Bengtsson et al.   JOURNAL OF CELL SCIENCE

Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations

(2008) Lee M. Fidler et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Left-Dominant Arrhythmogenic Cardiomyopathy

(2008) Srijita Sen-Chowdhry et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Pre-Participation Screening of Young Competitive Athletes for Prevention of Sudden Cardiac Death

(2008) Domenico Corrado et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family

(2008) Emmanuel C. Pica et al.   NEUROMUSCULAR DISORDERS

Disparate effects of different mutations in plakoglobin on cell mechanical behavior

(2008) Hayden Huang et al.   CELL MOTILITY AND THE CYTOSKELETON