title: 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.
abstract: In the past decade, an avalanche of findings and reports has correlated arrhythmogenic ventricular cardiomyopathies (ARVC) and Naxos and Carvajal diseases with certain mutations in protein constituents of the special junctions connecting the polar regions (intercalated disks) of mature mammalian cardiomyocytes. These molecules, apparently together with some specific cytoskeletal proteins, are components of (or interact with) composite junctions. Composite junctions contain the amalgamated fusion products of the molecules that, in other cell types and tissues, occur in distinct separate junctions, i.e. desmosomes and adherens junctions. As the pertinent literature is still in an expanding phase and is obviously becoming important for various groups of researchers in basic cell and molecular biology, developmental biology, histology, physiology, cardiology, pathology and genetics, the relevant references so far recognized have been collected and are presented here in the following order: desmocollin-2 (Dsc2, DSC2), desmoglein-2 (Dsg2, DSG2), desmoplakin (DP, DSP), plakoglobin (PG, JUP), plakophilin-2 (Pkp2, PKP2) and some non-desmosomal proteins such as transmembrane protein 43 (TMEM43), ryanodine receptor 2 (RYR2), desmin, lamins A and C, striatin, titin and transforming growth factor-β3 (TGFβ3), followed by a collection of animal models and of reviews, commentaries, collections and comparative studies.
authors.affiliation: Helmholtz Group for Cell Biology, German Cancer Research Center, Heidelberg, Germany. s.rickelt@dkfz.de
authors.forename: Steffen
authors.initials: S
authors.lastname: Rickelt
authors.forename: Sebastian
authors.initials: S
authors.lastname: Pieperhoff
mesh_terms: D000818:Animals; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000209:etiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009202:Cardiomyopathies / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D002311:Cardiomyopathy, Dilated; D051301:Desmoglein 2 / Q000235:genetics; D003896:Desmosomes / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D004195:Disease Models, Animal; D006201:Hair Diseases / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D009154:Mutation
chemical_list: D051301:Desmoglein 2