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

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

(2012) TB Rasmussen et al.   CLINICAL GENETICS

ExPASy: SIB bioinformatics resource portal

(2012) P. Artimo et al.   NUCLEIC ACIDS RESEARCH

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

(2012) Anna Gaertner et al.   PLoS One

Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele

(2011) Katja Gehmlich et al.   CARDIOVASCULAR PATHOLOGY

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

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

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

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

Pathophysiology of arrhythmogenic cardiomyopathy

(2011) Cristina Basso et al.   Nature Reviews Cardiology

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

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy

(2010) A. H. Christensen et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Shared Desmosome Gene Findings in Early and Late Onset Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2010) Boon Yew Tan et al.   Journal of Cardiovascular Translational Research

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2009) Barbara Bauce et al.   HEART RHYTHM

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

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

Desmosomes at a glance

(2009) Bhushan V. Desai et al.   JOURNAL OF CELL SCIENCE

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

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

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

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

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

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

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)

(2008) J. Hansen et al.   NEUROSCIENCE