Gene Symbol: Dsp
Description: desmoplakin
Alias: 2300002E22Rik, 5730453H04Rik, AA407887, AA407888, AW109828, rul, desmoplakin, desmoplakin I/II, desmosomal cytoskeletal connector molecule
Species: mouse
Products:     Dsp

Top Publications

  1. Ruhrberg C, Hajibagheri M, Parry D, Watt F. Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin. J Cell Biol. 1997;139:1835-49 pubmed
    ..analysis showed that the 195-kD protein is a member of the plakin family of proteins, to which envoplakin, desmoplakin, bullous pemphigoid antigen 1, and plectin belong. Envoplakin and the 195-kD protein coimmunoprecipitate...
  2. Ruiz P, Brinkmann V, Ledermann B, Behrend M, Grund C, Thalhammer C, et al. Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol. 1996;135:215-25 pubmed
    ..Instead, extended adherens junctions are formed in the heart, which contain desmosomal proteins, i.e., desmoplakin. Thus, plakoglobin is an essential component of myocardiac desmosomes and seems to play a crucial role in the ..
  3. Gallicano G, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, et al. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 1998;143:2009-22 pubmed
    ..Of the proteins implicated in making this IF connection, only desmoplakin (DP) is both exclusive to and ubiquitous among desmosomes...
  4. Thomason H, Zhou H, Kouwenhoven E, Dotto G, Restivo G, Nguyen B, et al. Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J Clin Invest. 2010;120:1561-9 pubmed publisher
    ..Our findings therefore identify p63 as a key regulatory molecule during palate development and provide a mechanism for the cooperative role of p63 and IRF6 in orofacial development in mice and humans. ..
  5. Zhou X, Stuart A, Dettin L, Rodriguez G, Hoel B, Gallicano G. Desmoplakin is required for microvascular tube formation in culture. J Cell Sci. 2004;117:3129-40 pubmed
    b>Desmoplakin (DP) is a key component of cellular adhesion junctions known as desmosomes; however, recent investigations have revealed a novel location for DP in junctions separate from desmosomes termed complexus adherens junctions...
  6. Gallicano G, Bauer C, Fuchs E. Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development. 2001;128:929-41 pubmed
    ..Desmosomes mediate intercellular adhesion through desmosomal cadherins, which interface with plakoglobin (PG) and desmoplakin (DP) to associate with the intermediate filament (IF) cytoskeleton. Desmosomes first assemble in the E3...
  7. Garrod D, Berika M, Bardsley W, Holmes D, Tabernero L. Hyper-adhesion in desmosomes: its regulation in wound healing and possible relationship to cadherin crystal structure. J Cell Sci. 2005;118:5743-54 pubmed
    ..We model hyper-adhesive desmosomes using the crystal packing observed for the ectodomain of C-cadherin and show how the regularity of this 3D array provides a possible explanation for Ca2+ independence...
  8. Lechler T, Fuchs E. Desmoplakin: an unexpected regulator of microtubule organization in the epidermis. J Cell Biol. 2007;176:147-54 pubmed
    ..Bornens. 2000. J. Cell Sci. 113:3013-3023), is lost from the centrosome and is recruited to desmosomes by desmoplakin (DP). Loss of DP prevents accumulation of cortical microtubules in vivo and in vitro...
  9. Sumigray K, Chen H, Lechler T. Lis1 is essential for cortical microtubule organization and desmosome stability in the epidermis. J Cell Biol. 2011;194:631-42 pubmed publisher
    ..In addition to binding intermediate filaments, the desmosomal protein desmoplakin (DP) regulates microtubule reorganization in the epidermis...

More Information


  1. Ihrie R, Marques M, Nguyen B, Horner J, Papazoglu C, Bronson R, et al. Perp is a p63-regulated gene essential for epithelial integrity. Cell. 2005;120:843-56 pubmed
    ..These findings demonstrate that Perp is a key effector in the p63 developmental program, playing an essential role in an adhesion subprogram central to epithelial integrity and homeostasis. ..
  2. Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E. Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol. 2001;3:1076-85 pubmed
    We have generated an epidermis-specific desmoplakin (DP) mouse knockout, and show that epidermal integrity requires DP; mechanical stresses to DP-null skin cause intercellular separations...
  3. Vasioukhin V, Bauer C, Degenstein L, Wise B, Fuchs E. Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin. Cell. 2001;104:605-17 pubmed
    ..in marked contrast to keratinocytes conditionally null for another essential intercellular adhesion protein, desmoplakin (DP)...
  4. Hesse M, Franz T, Tamai Y, Taketo M, Magin T. Targeted deletion of keratins 18 and 19 leads to trophoblast fragility and early embryonic lethality. EMBO J. 2000;19:5060-70 pubmed
    ..Our data also offer a rationale to explore the involvement of keratin mutations in early abortions during human pregnancies. ..
  5. Lombardi R, Chen S, Ruggiero A, Gurha P, Czernuszewicz G, Willerson J, et al. Cardiac Fibro-Adipocyte Progenitors Express Desmosome Proteins and Preferentially Differentiate to Adipocytes Upon Deletion of the Desmoplakin Gene. Circ Res. 2016;119:41-54 pubmed publisher
    ..FAPs expressed desmosome proteins, including desmoplakin, predominantly in the adipogenic but not fibrogenic subsets...
  6. Chen S, Gurha P, Lombardi R, Ruggiero A, Willerson J, Marian A. The hippo pathway is activated and is a causal mechanism for adipogenesis in arrhythmogenic cardiomyopathy. Circ Res. 2014;114:454-68 pubmed publisher
    ..5-Cre:Dsp(W/F) and Myh6:Jup mouse models of AC, and in the PKP2 knockdown HL-1 myocytes (HL-1(PKP2:shRNA))...
  7. Hirschy A, Schatzmann F, Ehler E, Perriard J. Establishment of cardiac cytoarchitecture in the developing mouse heart. Dev Biol. 2006;289:430-41 pubmed
    ..These observations help to understand the mechanisms that lead to the formation of a functional heart during development at a cellular level. ..
  8. Yoshida T, Miyoshi J, Takai Y, Thesleff I. Cooperation of nectin-1 and nectin-3 is required for normal ameloblast function and crown shape development in mouse teeth. Dev Dyn. 2010;239:2558-69 pubmed publisher
    ..These results suggest that heterophilic interaction between nectin-1 and nectin-3 recruits desmosomal junctions, and that these are required for proper enamel formation. ..
  9. Simon R, Brylka H, Schwegler H, Venkataramanappa S, Andratschke J, Wiegreffe C, et al. A dual function of Bcl11b/Ctip2 in hippocampal neurogenesis. EMBO J. 2012;31:2922-36 pubmed publisher
    ..Surprisingly, we identified Desmoplakin as a direct transcriptional target of Bcl11b...
  10. Matsui T, Hayashi Kisumi F, Kinoshita Y, Katahira S, Morita K, Miyachi Y, et al. Identification of novel keratinocyte-secreted peptides dermokine-alpha/-beta and a new stratified epithelium-secreted protein gene complex on human chromosome 19q13.1. Genomics. 2004;84:384-97 pubmed
    ..These findings indicated that dermokine-alpha/-beta, suprabasin, and Kdap are secreted from the spinous layer of the stratified epithelia and that these genes form a novel gene complex on the chromosome. ..
  11. Sharma P, Abbasi C, Lazic S, Teng A, Wang D, Dubois N, et al. Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function. Nat Commun. 2015;6:8391 pubmed publisher
    ..Our data demonstrate that the membrane protein Tmem65 is an intercalated disc protein that interacts with and functionally regulates ventricular Cx43. ..
  12. Pratt C, Dionne L, Fairfield H, Dadras S, Potter C, Sundberg J. Gnaq(M1J): An ENU-Induced Mutant Allele Affecting Pigmentation in the Mouse. J Invest Dermatol. 2016;136:334-6 pubmed publisher
  13. Vijayaraj P, Kröger C, Reuter U, Windoffer R, Leube R, Magin T. Keratins regulate protein biosynthesis through localization of GLUT1 and -3 upstream of AMP kinase and Raptor. J Cell Biol. 2009;187:175-84 pubmed publisher
    ..Our findings demonstrate a novel keratin function upstream of mTOR signaling via GLUT localization and have implications for pathomechanisms and therapy approaches for keratin disorders and the analysis of other gene families. ..
  14. Piprek R, Kolasa M, Podkowa D, Kloc M, Kubiak J. Cell adhesion molecules expression pattern indicates that somatic cells arbitrate gonadal sex of differentiating bipotential fetal mouse gonad. Mech Dev. 2017;147:17-27 pubmed publisher
    ..This indicates that differential CAMs expression pattern in the somatic cells but not in the germ line arbitrates structural organization of gonadal anlagen into testis or ovary. ..
  15. Simard Bisson C, Bidoggia J, Larouche D, Guérin S, Blouin R, Hirai S, et al. A Role for DLK in Microtubule Reorganization to the Cell Periphery and in the Maintenance of Desmosomal and Tight Junction Integrity. J Invest Dermatol. 2017;137:132-141 pubmed publisher
  16. Barron M, Brookes S, Draper C, Garrod D, Kirkham J, Shore R, et al. The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice. Hum Mol Genet. 2008;17:3509-20 pubmed publisher
    ..Importantly, our results show that integrity of the SI-ameloblast interface is essential for normal enamel mineralization. ..
  17. Karmouch J, Zhou Q, Miyake C, Lombardi R, Kretzschmar K, Bannier Hélaouët M, et al. Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes. Circ Res. 2017;121:1346-1359 pubmed publisher
    ..Homozygous DSP (desmoplakin) and JUP (junction protein plakoglobin) mutations are responsible for a subset of patients with ..
  18. Pyrgaki C, Liu A, Niswander L. Grainyhead-like 2 regulates neural tube closure and adhesion molecule expression during neural fold fusion. Dev Biol. 2011;353:38-49 pubmed publisher
    ..Taken together, our studies point to a complex regulation of neural tube fusion and highlight the importance of comparisons between these two models to understand more fully the molecular pathways of embryonic tissue closure. ..
  19. Chhatriwala M, Cipolat S, Sevilla L, Nachat R, Watt F. Exons 5-15 of kazrin are dispensable for murine epidermal morphogenesis and homeostasis. J Invest Dermatol. 2012;132:1977-87 pubmed publisher
    ..The mice had no obvious defects in skin development or homeostasis, and periplakin and desmoplakin localization was normal...
  20. Sasse P, Malan D, Fleischmann M, Roell W, Gustafsson E, Bostani T, et al. Perlecan is critical for heart stability. Cardiovasc Res. 2008;80:435-44 pubmed publisher
    ..We propose that perlecan plays an important role in maintaining the integrity during cardiac development and is important for heart function in the adult heart after injury. ..
  21. Bierkamp C, Schwarz H, Huber O, Kemler R. Desmosomal localization of beta-catenin in the skin of plakoglobin null-mutant mice. Development. 1999;126:371-81 pubmed
    ..Our analysis underlines the central role of plakoglobin for desmosomal assembly and function during embryogenesis. ..
  22. Cheng X, Mihindukulasuriya K, Den Z, Kowalczyk A, Calkins C, Ishiko A, et al. Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol. 2004;24:154-63 pubmed
    ..However, a comparison of our mutants with dsc1-null mice suggests that the Dsc1 extracellular domain is necessary to maintain structural integrity of the skin. ..
  23. Szabo S, Wögenstein K, Österreicher C, Guldiken N, Chen Y, Doler C, et al. Epiplakin attenuates experimental mouse liver injury by chaperoning keratin reorganization. J Hepatol. 2015;62:1357-66 pubmed publisher
    ..Our data indicate that epiplakin plays a protective role during experimental liver injuries by chaperoning disease-induced keratin reorganization. ..
  24. Hieda Y, Iwai K, Morita T, Nakanishi Y. Mouse embryonic submandibular gland epithelium loses its tissue integrity during early branching morphogenesis. Dev Dyn. 1996;207:395-403 pubmed
  25. Sumigray K, Lechler T. Desmoplakin controls microvilli length but not cell adhesion or keratin organization in the intestinal epithelium. Mol Biol Cell. 2012;23:792-9 pubmed publisher
    ..In this paper, we report that the desmosomal protein desmoplakin (DP) is not essential for cell adhesion in the intestinal epithelium...
  26. Watson E, Geary Joo C, Hughes M, Cross J. The Mrj co-chaperone mediates keratin turnover and prevents the formation of toxic inclusion bodies in trophoblast cells of the placenta. Development. 2007;134:1809-17 pubmed
  27. Lyon R, Mezzano V, Wright A, Pfeiffer E, Chuang J, Banares K, et al. Connexin defects underlie arrhythmogenic right ventricular cardiomyopathy in a novel mouse model. Hum Mol Genet. 2014;23:1134-50 pubmed publisher
    ..Homozygous loss-of-function mutations in the desmosomal component, desmoplakin, are found in patients exhibiting a biventricular form of ARVC; however, no models recapitulate the postnatal ..
  28. Den Z, Cheng X, Merched Sauvage M, Koch P. Desmocollin 3 is required for pre-implantation development of the mouse embryo. J Cell Sci. 2006;119:482-9 pubmed
    ..Unexpectedly, homozygous mutants show a pre-implantation lethal phenotype. In fact, most mutants die even before mature desmosomes are formed in the embryo, suggesting a new and unexpected role of Dsc3 during early development. ..
  29. Lombardi R, Dong J, Rodriguez G, Bell A, Leung T, Schwartz R, et al. Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy. Circ Res. 2009;104:1076-84 pubmed publisher
    ..expressed the reporter enhanced yellow fluorescent protein while concomitantly deleting the desmosomal protein desmoplakin in cardiac myocyte lineages using the Cre-LoxP technique...
  30. Sato M, Jiao Q, Honda T, Kurotani R, Toyota E, Okumura S, et al. Activator of G protein signaling 8 (AGS8) is required for hypoxia-induced apoptosis of cardiomyocytes: role of G betagamma and connexin 43 (CX43). J Biol Chem. 2009;284:31431-40 pubmed publisher
    ..Under hypoxic stress, this unrecognized response program plays a critical role in the fate of NCM. ..
  31. Seeger T, Frank D, Rohr C, Will R, Just S, Grund C, et al. Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo. Circ Res. 2010;106:880-90 pubmed publisher
    ..In cardiac tissue it localized to the ID and directly binds to desmoplakin and zonula occludens-1...
  32. Acehan D, Petzold C, Gumper I, Sabatini D, Muller E, Cowin P, et al. Plakoglobin is required for effective intermediate filament anchorage to desmosomes. J Invest Dermatol. 2008;128:2665-75 pubmed publisher
    ..substitute for PG in the clustering of cadherins, but is unable to recruit normal levels of plakophilin-1 and desmoplakin to the plaque...
  33. Gallicano G, Foshay K, Pengetnze Y, Zhou X. Dynamics and unexpected localization of the plakin binding protein, kazrin, in mouse eggs and early embryos. Dev Dyn. 2005;234:201-14 pubmed
    ..found in adult tissues, primarily epidermis, linking periplakin to the plasma membrane and colocalizing with desmoplakin in desmosomes...
  34. Boczonadi V, Gillespie R, Keenan I, Ramsbottom S, Donald Wilson C, Al Nazer M, et al. Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium. Cardiovasc Res. 2014;104:103-15 pubmed publisher
    ..These data also show that the foetus can recover from relatively severe abnormalities in prenatal ventricular development, although cardiac fibrosis can be a long-term consequence. ..
  35. Richardson R, Hammond N, Coulombe P, Saloranta C, Nousiainen H, Salonen R, et al. Periderm prevents pathological epithelial adhesions during embryogenesis. J Clin Invest. 2014;124:3891-900 pubmed publisher
    ..Furthermore, this study suggests that failure of periderm formation underlies a series of devastating birth defects, including popliteal pterygium syndrome, cocoon syndrome, and Bartsocas-Papas syndrome. ..
  36. Albrecht L, Zhang L, Shabanowitz J, Purevjav E, Towbin J, Hunt D, et al. GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics. J Cell Biol. 2015;208:597-612 pubmed publisher
    ..1 (PRMT-1) cooperate to orchestrate a series of posttranslational modifications on the IF-anchoring protein desmoplakin (DP) that play an essential role in coordinating cytoskeletal dynamics and cellular adhesion...
  37. Ferone G, Mollo M, Thomason H, Antonini D, Zhou H, Ambrosio R, et al. p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013;22:531-43 pubmed publisher
    ..Expression of desmosomal cadherins and desmoplakin was strongly reduced in AEC mutant keratinocytes and in newborn epidermis...
  38. Ciani L, Patel A, Allen N, Ffrench Constant C. Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype. Mol Cell Biol. 2003;23:3575-82 pubmed
    ..Our results confirm a necessary role for FAT1 in the modified adhesion junctions of the renal glomerular epithelial cell and reveal hitherto unsuspected roles for FAT1 in CNS development. ..
  39. Sund M, Ylönen R, Tuomisto A, Sormunen R, Tahkola J, Kvist A, et al. Abnormal adherence junctions in the heart and reduced angiogenesis in transgenic mice overexpressing mutant type XIII collagen. EMBO J. 2001;20:5153-64 pubmed
    ..These results indicate that type XIII collagen has an important role in certain adhesive interactions that are necessary for normal development. ..
  40. Zhang L, Deng M, Kao C, Kao W, Xia Y. MEK kinase 1 regulates c-Jun phosphorylation in the control of corneal morphogenesis. Mol Vis. 2003;9:584-93 pubmed
    ..of tight junction, but had no effect on the expression of E-cadherin and beta-catenin for adherens junctions, desmoplakin and desmoglein for desmosomes and cytokeratins 12 and 14 for cornea-type epithelial differentiation in the ..
  41. Chen J, Zhou B, Yu Q, Shin S, Jiao K, Schneider M, et al. Cardiomyocyte-specific deletion of the coxsackievirus and adenovirus receptor results in hyperplasia of the embryonic left ventricle and abnormalities of sinuatrial valves. Circ Res. 2006;98:923-30 pubmed
    ..In addition, the results suggest that CAR-mediated intercellular contacts may regulate proliferation and differentiation of cardiomyocytes within the embryonic left ventricular wall. ..
  42. Martherus R, Jain R, Takagi K, Mendsaikhan U, Turdi S, Osinska H, et al. Accelerated cardiac remodeling in desmoplakin transgenic mice in response to endurance exercise is associated with perturbed Wnt/β-catenin signaling. Am J Physiol Heart Circ Physiol. 2016;310:H174-87 pubmed publisher
    ..The purpose of this study was to investigate how chronic endurance exercise contributes to desmoplakin (DSP) mutation-induced AVC pathogenesis...
  43. Tanaka Y, Yoshikawa M, Kobayashi Y, Kuroda M, Kaito M, Shiroi A, et al. Expressions of hepatobiliary organic anion transporters and bilirubin-conjugating enzyme in differentiating embryonic stem cells. Biochem Biophys Res Commun. 2003;309:324-30 pubmed
    ..An immunofluorescence examination revealed that oatp1 was co-located with desmoplakin, a marker for the basolateral (sinusoidal) membrane, and mrp2 was co-localized with CD26, a marker for the ..
  44. Yang Z, Bowles N, Scherer S, Taylor M, Kearney D, Ge S, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res. 2006;99:646-55 pubmed
    ..Mutations in 6 genes, including 4 encoding desmosomal proteins (Junctional plakoglobin (JUP), Desmoplakin (DSP), Plakophilin 2, and Desmoglein 2), have been identified in patients with ARVD/C...
  45. Moore Scott B, Opoka R, Lin S, Kordich J, Wells J. Identification of molecular markers that are expressed in discrete anterior-posterior domains of the endoderm from the gastrula stage to mid-gestation. Dev Dyn. 2007;236:1997-2003 pubmed
    ..Three genes Tmprss2, NM_029639, and Dsp are expressed in a presumptive midgut domain overlying the node, a domain for which molecular markers have not ..
  46. Liao W, Juo L, Shih Y, Chen Y, Yan Y. HSPB7 prevents cardiac conduction system defect through maintaining intercalated disc integrity. PLoS Genet. 2017;13:e1006984 pubmed publisher
    ..Mislocalization of desmoplakin, and N-cadherin, the intercalated disc proteins, was also observed in the HSPB7 CKO hearts...
  47. Chun M, Hanahan D. Genetic deletion of the desmosomal component desmoplakin promotes tumor microinvasion in a mouse model of pancreatic neuroendocrine carcinogenesis. PLoS Genet. 2010;6:e1001120 pubmed publisher
    ..Genetic deletion of one of these desmosomal components, desmoplakin, resulted in increased local tumor invasion without affecting tumor growth parameters in RT2 PNETs...
  48. Cattelino A, Liebner S, Gallini R, Zanetti A, Balconi G, Corsi A, et al. The conditional inactivation of the beta-catenin gene in endothelial cells causes a defective vascular pattern and increased vascular fragility. J Cell Biol. 2003;162:1111-22 pubmed
    ..cells showed a different organization of intercellular junctions with a decrease in alpha-catenin in favor of desmoplakin and marked changes in actin cytoskeleton...
  49. Garcia Gras E, Lombardi R, Giocondo M, Willerson J, Schneider M, Khoury D, et al. Suppression of canonical Wnt/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest. 2006;116:2012-21 pubmed
    ..We established atrial myocyte cell lines expressing siRNA against desmoplakin (DP), responsible for human ARVC...
  50. Choy L, Yeo J, Tse V, Chan S, Tse G. Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models. Int J Cardiol Heart Vasc. 2016;12:1-10 pubmed
    ..Mouse models can serve as useful systems in which to explore how protein defects contribute to arrhythmias and direct future therapy. ..
  51. Grossmann K, Grund C, Huelsken J, Behrend M, Erdmann B, Franke W, et al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol. 2004;167:149-60 pubmed
    ..In the absence of plakophilin 2, the cytoskeletal linker protein desmoplakin dissociates from the plaques of the adhering junctions that connect the cardiomyocytes and forms granular ..
  52. Zhang Q, Deng C, Rao F, Modi R, Zhu J, Liu X, et al. Silencing of desmoplakin decreases connexin43/Nav1.5 expression and sodium current in HL?1 cardiomyocytes. Mol Med Rep. 2013;8:780-6 pubmed publisher
    ..The desmosomal plakin protein, desmoplakin (DSP), also plays a crucial role in the stability of these interconnected components as well as gap junction ..
  53. Herbert Pratt C, Potter C, Fairfield H, Reinholdt L, Bergstrom D, Harris B, et al. Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome. Exp Mol Pathol. 2015;98:164-72 pubmed publisher
    ..Using high-throughput sequencing (HTS) we found a frameshift mutation at 38,288,978bp of chromosome 13 in the desmoplakin gene (Dsp)...
  54. Green K, Guy S, Cserhalmi Friedman P, McLean W, Christiano A, Wagner R. Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers. Exp Dermatol. 1999;8:462-70 pubmed
    ..In this study, the human gene encoding desmoplakin (DSP) was characterized and its structure compared with the related family members: plectin, bullous pemphigoid ..
  55. Gess B, Röhr D, Lange E, Halfter H, Young P. Desmoplakin is involved in organization of an adhesion complex in peripheral nerve regeneration after injury. Exp Neurol. 2015;264:55-66 pubmed publisher
    ..In this study, we analyzed the expression and function of desmoplakin in peripheral nerve regeneration...
  56. Manthey A, Lachke S, FitzGerald P, Mason R, Scheiblin D, McDonald J, et al. Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development. Mech Dev. 2014;131:86-110 pubmed publisher
  57. Kljuic A, Bauer R, Christiano A. Genomic organization of mouse desmocollin genes reveals evolutionary conservation. DNA Seq. 2004;15:148-52 pubmed
    ..Interestingly, at the genomic level, desmocollins show a higher degree of similarity to the classical cadherins, such as E-cadherin, than to the desmogleins. ..
  58. Lee P, Jiang S, Li Y, Yue J, Gou X, Chen S, et al. Phosphorylation of Pkp1 by RIPK4 regulates epidermal differentiation and skin tumorigenesis. EMBO J. 2017;36:1963-1980 pubmed publisher
    ..Taken together, our study presents a global view of phosphoproteomic changes that occur during epidermal differentiation, and identifies RIPK-PKP1 signaling as novel axis involved in skin stratification and tumorigenesis. ..
  59. Goossens S, Janssens B, Bonne S, De Rycke R, Braet F, van Hengel J, et al. A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs. J Cell Sci. 2007;120:2126-36 pubmed
    ..This could explain the devastating effect of plakophilin-2 mutations on cell junction stability in intercalated discs, which lead to cardiac muscle malfunction. ..
  60. Gustafson Wagner E, Sinn H, Chen Y, Wang D, Reiter R, Lin J, et al. Loss of mXinalpha, an intercalated disk protein, results in cardiac hypertrophy and cardiomyopathy with conduction defects. Am J Physiol Heart Circ Physiol. 2007;293:H2680-92 pubmed
    ..mice, there is a significant decrease in the expression level of p120-catenin, beta-catenin, N-cadherin, and desmoplakin, which could compromise the integrity of the intercalated disks and functionally weaken adhesion, leading to ..
  61. Sevilla L, Nachat R, Groot K, Klement J, Uitto J, Djian P, et al. Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier. J Cell Biol. 2007;179:1599-612 pubmed publisher
    ..Thus, combined loss of the cornified envelope proteins not only impairs the epidermal barrier, but also changes the composition of T cell subpopulations in the skin. ..
  62. Nakamura T, Ohtsuka T, Sekiyama E, Cooper L, Kokubu H, Fullwood N, et al. Hes1 regulates corneal development and the function of corneal epithelial stem/progenitor cells. Stem Cells. 2008;26:1265-74 pubmed publisher
    ..Our data provide the first evidence that Hes1 regulates corneal development and the homeostatic function of corneal epithelial stem/progenitor cells. ..
  63. Jheon A, Mostowfi P, Snead M, Ihrie R, Sone E, Pramparo T, et al. PERP regulates enamel formation via effects on cell-cell adhesion and gene expression. J Cell Sci. 2011;124:745-54 pubmed publisher
    ..Together, our data show that PERP is necessary for the integrity of the ameloblast-SI interface and that a lack of Perp causes downregulation of genes that are required for proper enamel formation. ..
  64. Whitman S, Cover C, Yu L, Nelson D, Zarnescu D, Gregorio C. Desmoplakin and talin2 are novel mRNA targets of fragile X-related protein-1 in cardiac muscle. Circ Res. 2011;109:262-71 pubmed publisher
    ..Using RNA immunoprecipitation approaches we found that desmoplakin and talin2 mRNAs associate with FXR1 in a complex...