Insights into Desmosome Biology from Inherited Human Skin Disease and Cardiocutaneous Syndromes

References

• Acehan D, Petzold C, Gumper I, Sabatini DD, Muller EJ, Cowin P, Stokes DL (2008). Plakoglobin is required for effective intermediate filament anchorage to desmosomes. J Invest Dermatol, 128: 2665–2675.
   PubMed Web of Science ®Google Scholar
• Adrain C, Zettl M, Christova Y, Taylor N, Freeman M (2012). Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE. Science.335: 225–228.
   PubMed Web of Science ®Google Scholar
• Al-Jassar C, Bikker H, Overduin M, Chidgey M (2013). Mechanistic basis of desmosome-targeted diseases. J Mol Biol.425: 4006–4022.
   PubMed Web of Science ®Google Scholar
• Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (2003). A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Card.42: 319–327.
   PubMed Web of Science ®Google Scholar
• Angst BD, Nilles LA, Green KJ (1990). Desmoplakin II expression is not restricted to stratified epithelia. J Cell Sci.97: 247–257.
   PubMed Web of Science ®Google Scholar
• Armstrong D, Mckenna K, Purkis P, Green K, Eady R, Leigh I, Hughes A (1999). Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet.8: 143–148.
   PubMed Web of Science ®Google Scholar
• Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, Mckenna WJ (2007). A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy. Am J Hum Genet.81: 964–973.
   PubMed Web of Science ®Google Scholar
• Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP (2006a). DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet.79: 136–142.
   PubMed Web of Science ®Google Scholar
• Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP (2006b). Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat.27: 1157–1167.
   PubMedGoogle Scholar
• Ayub M, Basit S, Jelani M, Rehman FU, Iqbal M, Yasinzai M, Ahmad W (2009). A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet.85: 515–520.
   PubMed Web of Science ®Google Scholar
• Bannon LJ, Cabrera BL, Stack MS, Green KJ (2001). Isoform-specific differences in the size of desmosomal cadherin/catenin complexes. J Invest Dermatol.117: 1302–1306.
   PubMed Web of Science ®Google Scholar
• Bass-Zubek AE, Hobbs RP, Amargo EV, Garcia NJ, Hsieh SN, Chen X, Wahl JK, iii DENNING, MF, Green KJ (2008). Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly. J Cell Biol.181: 605–613.
   PubMed Web of Science ®Google Scholar
• Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2005). Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Invest Dermatol Symp Proc.10: 222–224.
   PubMed Web of Science ®Google Scholar
• Bech-Serra JJ, Santiago-Josefat B, Esselens C, Saftig P, Baselga J, Arribas J, Canals F (2006). Proteomic identification of desmoglein 2 and activated leukocyte cell adhesion molecule as substrates of ADAM17 and ADAM10 by difference gel electrophoresis. Mol Cell Biol.26: 5086–5095.
   PubMed Web of Science ®Google Scholar
• Beck AL, Jr., Finocchio AF, White JP (1977). Darier's disease: a kindred with a large number of cases. Br J Dermatol.97: 335–339.
   PubMed Web of Science ®Google Scholar
• Bierkamp C, Mclaughlin KJ, Schwarz H, Huber O, Kemler R (1996). Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol.180: 780–785.
   PubMed Web of Science ®Google Scholar
• Blaydon DC, Biancheri MD, Di WL, Plagnol V, Cabral RM, Brooke MA, Van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, Macdonald TT, Harper JI, Kelsell DP (2011a). Inflammatory skin and bowel disease linked to ADAM17 Deletion. N Eng J Med.365: 32–38.
   PubMedGoogle Scholar
• Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, Van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP (2011b). Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet.89: 564–571.
   PubMed Web of Science ®Google Scholar
• Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, Mcronald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet.90: 340–346.
   PubMed Web of Science ®Google Scholar
• Bonne S, Van Hengel J., Nollet F, Kools P, Van Roy F (1999). Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. J Cell Sci.112 (Pt 14): 2265–2276.
   PubMed Web of Science ®Google Scholar
• Bornslaeger EA, Godsel LM, Corcoran CM, Park JK, Hatzfeld M, Kowalczyk AP, Green KJ (2001). Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. J Cell Sci.114: 727–738.
   PubMed Web of Science ®Google Scholar
• Boyce AE, McGrath JA, Techanukul T, Murrell DF, Chow CW, Mcgregor L, Warren LJ (2012). Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australas J Dermatol.53: 61–65.
   PubMed Web of Science ®Google Scholar
• Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'toole E, Ishida-Yamamoto A, Marches O, Getsios S, Kelsell DP (2014). iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function. Hum Mol Genet. Epub ahead of print, doi:.10.1093/hmg/ddu120
   Google Scholar
• Brooke MA, Nitoiu D, Kelsell DP (2012). Cell-cell connectivity: desmosomes and disease. J Pathol.226: 158–171.
   PubMed Web of Science ®Google Scholar
• Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente MDC, Kelsell DP, McGrath JA, South AP (2010a). Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol.130: 1543–1550.
   PubMed Web of Science ®Google Scholar
• Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP (2010b). Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res.341: 121–129.
   PubMed Web of Science ®Google Scholar
• Cabral RM, Tattersall D, Patel V, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP (2012). The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion. J Cell Sci. 125: 2853–2861.
   PubMedGoogle Scholar
• Celli A, Mackenzie DS, Zhai Y, Tu CL, Bikle DD, Holleran WM, Uchida Y, Mauro TM (2012). SERCA2-controlled Ca(2)+-dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier's disease. J Invest Dermatol.132: 1188–1195.
   PubMed Web of Science ®Google Scholar
• Chen X, Bonne S, Hatzfeld M, Van Roy F, Green KJ (2002). Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. J Biol Chem.277: 10512–10522.
   Google Scholar
• Chidgey M (2001). Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol.155: 821–832.
   PubMed Web of Science ®Google Scholar
• Choi HJ, Gross JC, Pokutta S, Weis WI (2009). Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes. J Biol Chem.284: 31776–31788.
   PubMed Web of Science ®Google Scholar
• Choi HJ, Park-Snyder S, Pascoe LT, Green KJ, Weis WI (2002). Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure. Nat Struct Biol.9: 612–620.
   PubMedGoogle Scholar
• Cirillo N, Lanza A, Prime SS (2010). Induction of hyper-adhesion attenuates autoimmune-induced keratinocyte cell-cell detachment and processing of adhesion molecules via mechanisms that involve PKC. Exp Cell Res.316: 580–592.
   PubMed Web of Science ®Google Scholar
• Collins JE, Legan PK, Kenny TP, Macgarvie J, Holton JL, Garrod DR (1991). Cloning and sequence analysis of desmosomal glycoproteins 2 and 3 (desmocollins): cadherin-like desmosomal adhesion molecules with heterogeneous cytoplasmic domains. J Cell Biol.113: 381–391.
   PubMed Web of Science ®Google Scholar
• Delmar M, McKenna WJ (2010). The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res.107: 700–714.
   PubMed Web of Science ®Google Scholar
• Delva E, Tucker DK, Kowalczyk AP (2009). The desmosome. Cold Spring Harb Perspect Biol.1: a002543.
   PubMed Web of Science ®Google Scholar
• Desai BV, Harmon RM, Green KJ (2009). Desmosomes at a glance. J Cell Sci.122: 4401–4407.
   PubMed Web of Science ®Google Scholar
• Dhitavat J, Cobbold C, Leslie N, Burge S, Hovnanian A (2003). Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes. J Invest Dermatol.121: 1349–1355.
   PubMed Web of Science ®Google Scholar
• Dode L, Andersen JP, Leslie N, Dhitavat J, Vilsen B, Hovnanian A (2003). Dissection of the functional differences between sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses. J Biol Chem.278: 47877–47889.
   Google Scholar
• Ellis A, Field JK, Field EA, Friedmann PS, Fryer A, Howard P, Leigh IM, Risk J, Shaw JM, Whittaker J (1994). Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family–a review of six generations. Eur J Cancer B Oral Oncol.30B: 102–112.
   PubMed Web of Science ®Google Scholar
• Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M (2011). Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol. 165: 917–921
   PubMed Web of Science ®Google Scholar
• Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA (2006). Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol.55: 157–161.
   PubMed Web of Science ®Google Scholar
• Farquhar MG, Palade GE (1963). Junctional complexes in various epithelia. J Cell Biol.17: 375–412.
   PubMed Web of Science ®Google Scholar
• Foggia L, Aronchik I, Aberg K, Brown B, Hovnanian A, Mauro TM (2006). Activity of the hSPCA1 Golgi Ca2+ pump is essential for Ca2+-mediated Ca2+ response and cell viability in Darier disease. J Cell Sci.119: 671–679.
   PubMed Web of Science ®Google Scholar
• Franke WW, Borrmann CM, Grund C, Pieperhoff S (2006). The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins. Eur J Cell Biol.85: 69–82.
   PubMed Web of Science ®Google Scholar
• Franke WW, Schumacher H, Borrmann CM, Grund C, Winter-Simanowski S, Schlechter T, Pieperhoff S, Hofmann I (2007). The area composita of adhering junctions connecting heart muscle cells of vertebrates - III: assembly and disintegration of intercalated disks in rat cardiomyocytes growing in culture. Eur J Cell Biol.86: 127–142.
   PubMed Web of Science ®Google Scholar
• Gallicano GI, Bauer C, Fuchs E (2001). Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development.128: 929–941.
   PubMed Web of Science ®Google Scholar
• Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E (1998). Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol.143: 2009–2022.
   PubMedGoogle Scholar
• Garrod DR (2005). Hyper-adhesion in desmosomes: its regulation in wound healing and possible relationship to cadherin crystal structure. J Cell Sci.118: 5743–5754.
   PubMed Web of Science ®Google Scholar
• Garrod DR, Merritt AJ, Nie Z (2002). Desmosomal cadherins. Curr Opin Cell Biol.14: 537–545.
   PubMed Web of Science ®Google Scholar
• Gerull B, Heuser A, Wichter T, Paul M, Basson CT, Mcdermott DA, Lerman BB, Markowitz SM, Ellinor PT, Macrae CA, Peters S, Grossmann KS, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L (2004). Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet.36: 1162–1164.
   PubMed Web of Science ®Google Scholar
• Getsios S, Amargo EV, Dusek RL, Ishii K, Sheu L, Godsel LM, Green KJ (2004a). Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion. Differentiation.72: 419–433.
   PubMed Web of Science ®Google Scholar
• Getsios S, Huen AC, Green KJ (2004b). Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol.5: 271–281.
   PubMed Web of Science ®Google Scholar
• Godsel LM, Hsieh SN, Amargo EV, Bass AE, Pascoe-Mcgillicuddy LT, Huen AC, Thorne ME, Gaudry CA, Park JK, Myung K, Goldman RD, Chew TL, Green KJ (2005). Desmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin. J Cell Biol.171: 1045–1059.
   PubMed Web of Science ®Google Scholar
• Green KJ, Gaudry CA (2000). Are desmosomes more than tethers for intermediate filaments?Nat Rev Mol Cell Biol.1: 208–216.
   PubMedGoogle Scholar
• Green KJ, Getsios S, Troyanovsky S, Godsel LM (2010). Intercellular junction assembly, dynamics, and homeostasis. Cold Spring Harb Perspect Biol.2: a000125.
   PubMed Web of Science ®Google Scholar
• Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W (2004). Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol.167: 149–160.
   PubMed Web of Science ®Google Scholar
• Gschwind A, Hart S, Fischer OM, Ullrich A (2003). TACE cleavage of proamphiregulin regulates GPCR-induced proliferation and motility of cancer cells. EMBO J.22: 2411–2421.
   PubMed Web of Science ®Google Scholar
• Hatzfeld M (2005). The p120 family of cell adhesion molecules. Eur J Cell Biol.84: 205–214.
   PubMed Web of Science ®Google Scholar
• Hatzfeld M (2007). Plakophilins: multifunctional proteins or just regulators of desmosomal adhesion?Biochim Biophys Acta.1773: 69–77.
   PubMed Web of Science ®Google Scholar
• Hatzfeld M, Haffner C, Schulze K, Vinzens U (2000). The function of plakophilin 1 in desmosome assembly and actin filament organization. J Cell Biol.149: 209–222.
   PubMed Web of Science ®Google Scholar
• Heid HW, Schmidt A, Zimbelmann R, Schafer S, Winter-Simanowski S, Stumpp S, Keith M, Figge U, Schnolzer M, Franke WW (1994). Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein). Differentiation.58: 113–131.
   PubMed Web of Science ®Google Scholar
• Hennies HC, Hagedorn M, Reis A (1995). Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Genomics.29: 537–540.
   PubMed Web of Science ®Google Scholar
• Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, Macrae CA, Gerull B (2006). Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet.79: 1081–1088.
   PubMed Web of Science ®Google Scholar
• Hobbs RP, Amargo EV, Somasundaram A, Simpson CL, Prakriya M, Denning MF, Green KJ (2011). The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCalpha signaling. FASEB J.25: 990–1001.
   PubMed Web of Science ®Google Scholar
• Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnolzer M, Herrmann H (2000). Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. J Cell Sci.113: 2471–2483.
   PubMed Web of Science ®Google Scholar
• Holthofer B, Windoffer R, Troyanovsky S, Leube RE (2007). Structure and function of desmosomes. Int Rev Cytol.264: 65–163.
   PubMedGoogle Scholar
• Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH, J. R (2000). Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nature Genet. 24: 61–65.
   PubMed Web of Science ®Google Scholar
• Huen AC, Park JK, Godsel LM, Chen X, Bannon LJ, Amargo EV, Hudson TY, Mongiu AK, Leigh IM, Kelsell DP, Gumbiner BM, Green KJ (2002). Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. J Cell Biol.159: 1005–1017.
   PubMed Web of Science ®Google Scholar
• Jahoda CA, Kljuic A, O'shaughnessy R, Crossley N, Whitehouse CJ, Robinson M, Reynolds AJ, Demarchez M, Porter RM, Shapiro L, Christiano AM (2004). The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Genomics.83: 747–756.
   PubMed Web of Science ®Google Scholar
• Jonkman MF, Pasmooij AM, Pasmans SG, Van Den Berg MP, Ter Horst HJ, Timmer A, Pas HH (2005). Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet.77: 653–660.
   PubMed Web of Science ®Google Scholar
• Kelly DE (1966). Fine structure of desmosomes., hemidesmosomes, and an adepidermal globular layer in developing newt epidermis. J Cell Biol.28: 51–72.
   PubMed Web of Science ®Google Scholar
• Kimura TE, Merritt AJ, Garrod DR (2007). Calcium-independent desmosomes of keratinocytes are hyper-adhesive. J Invest Dermatol.127: 775–781.
   PubMed Web of Science ®Google Scholar
• King IA, Sullivan KH, Bennett R, Jr, Buxton RS (1995). The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. J Invest Dermatol.105: 314–21.
   PubMed Web of Science ®Google Scholar
• Klessner JL, Desai BV, Amargo EV, Getsios S, Green KJ (2009). EGFR and ADAMs cooperate to regulate shedding and endocytic trafficking of the desmosomal cadherin desmoglein 2. Mol Biol Cell.20: 328–337.
   PubMed Web of Science ®Google Scholar
• Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM (2003a). Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 113: 249–260.
   PubMed Web of Science ®Google Scholar
• Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A (2003b). A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol.12: 523–527.
   PubMed Web of Science ®Google Scholar
• Kljuic A, Bauer RC, Christiano AM (2004). Genomic organization of mouse desmocollin genes reveals evolutionary conservation. DNA Seq.15: 148–152.
   PubMed Web of Science ®Google Scholar
• Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L, Murphy GF, Whitaker-Menezes D, Stanley JR (1997). Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol.137: 1091–1102.
   PubMed Web of Science ®Google Scholar
• Kottke MD, Delva E, Kowalczyk AP (2006). The desmosome: cell science lessons from human diseases. J Cell Sci.119: 797–806.
   PubMed Web of Science ®Google Scholar
• Kowalczyk AP, Hatzfeld M, Bornslaeger EA, Kopp DS, Borgwardt JE, Corcoran CM, Settler A, Green KJ (1999). The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease. J Biol Chem.274: 18145–18148.
   PubMed Web of Science ®Google Scholar
• Kowalczyk AP, Stappenbeck TS, Parry DA, Palka HL, Virata ML, Bornslaeger EA, Nilles LA, Green KJ (1994). Structure and function of desmosomal transmembrane core and plaque molecules. Biophys Chem.50: 97–112.
   PubMed Web of Science ®Google Scholar
• Legan PK, Yue KK, Chidgey MA, Holton JL, Wilkinson RW, Garrod DR (1994). The bovine desmocollin family: a new gene and expression patterns reflecting epithelial cell proliferation and differentiation. J Cell Biol.126: 507–518.
   PubMed Web of Science ®Google Scholar
• Li D, Zhang W, Liu Y, Haneline LS, Shou W (2012). Lack of Plakoglobin in Epidermis Leads to Keratoderma. J Biol Chem.287: 10435–10443.
   PubMed Web of Science ®Google Scholar
• Li J, Radice GL (2010). A new perspective on intercalated disc organization: implications for heart disease. Dermatol Res Pract.2010: 207835.
   PubMedGoogle Scholar
• Loffek S, Bruckner-Tuderman L, Magin TM (2012). Involvement of the ubiquitin-proteasome system in the stabilization of cell-cell contacts in human keratinocytes. Exp Dermatol.21: 791–793.
   PubMed Web of Science ®Google Scholar
• Lorch JH, Klessner J, Park JK, Getsios S, Wu YL, Stack MS, Green KJ (2004). Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells. J Biol Chem.279: 37191–37200.
   PubMed Web of Science ®Google Scholar
• McGrath JA, Mcmillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA (1997). Mutations in the plakophilin 1 gene result in ectodermal dysplasia/ skin fragility syndrome. Nat Genet.17: 240–244.
   PubMed Web of Science ®Google Scholar
• McIlwain DR, Lang PA, Maretzky T, Hamada K, Ohishi K, Maney SK, Berger T, Murthy A, Duncan G, Xu HC, Lang KS, Haussinger D, Wakeham A, Itie-Youten A, Khokha R, Ohashi PS, Blobel CP, Mak TW (2012). iRhom2 Regulation of TACE Controls TNF-Mediated Protection Against Listeria and Responses to LPS. Science.335: 229–232.
   PubMed Web of Science ®Google Scholar
• McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, Mckenna WJ (2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet.355: 2119–2124.
   PubMed Web of Science ®Google Scholar
• Mertens C, Kuhn C, Franke WW (1996). Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. J Cell Biol.135: 1009–1025.
   PubMed Web of Science ®Google Scholar
• Mertens C, Kuhn C, Moll R, Schwetlick I, Franke WW (1999). Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. Differentiation.64: 277–290.
   PubMed Web of Science ®Google Scholar
• Miyauchi Y, Daiho T, Yamasaki K, Takahashi H, Ishida-Yamamoto A, Danko S, Suzuki H, Iizuka H (2006). Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease. J Biol Chem.281: 22882–22895.
   PubMed Web of Science ®Google Scholar
• Nekrasova O, Green KJ (2013). Desmosome assembly and dynamics. Trends Cell Biol.23: 537–546.
   PubMed Web of Science ®Google Scholar
• Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP (2000). Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet.9: 2761–2766.
   PubMed Web of Science ®Google Scholar
• Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP (2006). Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol.126: 1651–1654.
   PubMed Web of Science ®Google Scholar
• Norman M (2005). Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation.112: 636–642.
   PubMed Web of Science ®Google Scholar
• North AJ, Chidgey MA, Clarke JP, Bardsley WG, Garrod DR (1996). Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis. Proc Natl Acad Sci USA.93: 7701–7705.
   PubMed Web of Science ®Google Scholar
• Pani B, Cornatzer E, Cornatzer W, Shin DM, Pittelkow MR, Hovnanian A, Ambudkar IS, Singh BB (2006). Up-regulation of transient receptor potential canonical 1 (TRPC1) following sarco(endo)plasmic reticulum Ca2+ ATPase 2 gene silencing promotes cell survival: a potential role for TRPC1 in Darier's disease. Mol Biol Cell.17: 4446–4458.
   PubMed Web of Science ®Google Scholar
• Peschon JJ, Slack JL, Reddy P, Stocking KL, Sunnarborg SW, Lee DC, Russell WE, Castner BJ, Johnson RS, Fitzner JN, Boyce RW, Nelson N, Kozlosky CJ, Wolfson MF, Rauch CT, Cerretti DP, Paxton RJ, March CJ, Black RA (1998). An essential role for ectodomain shedding in mammalian development. Science.282: 1281–1284.
   PubMed Web of Science ®Google Scholar
• Pieperhoff S, Barth M, Rickelt S, Franke WW (2010). Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells. Dermatol Res Pract.2010: 139167.
   PubMedGoogle Scholar
• Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C (2011). Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet.20: 1811–1819.
   PubMed Web of Science ®Google Scholar
• Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A (2006). Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation.113: 1171–1179.
   PubMed Web of Science ®Google Scholar
• Pokutta S, Weis WI (2007). Structure and mechanism of cadherins and catenins in cell-cell contacts. Annu Rev Cell Dev Biol.23: 237–261.
   PubMed Web of Science ®Google Scholar
• Protonotarios N, Tsatsopoulou A (2004). Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol.13: 185–194.
   PubMed Web of Science ®Google Scholar
• Pruessmeyer J, Ludwig A (2009). The good, the bad and the ugly substrates for ADAM10 and ADAM17 in brain pathology, inflammation and cancer. Semin Cell Dev Biol.20: 164–174.
   Google Scholar
• Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA (2002). Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J of Hum Genet.71: 1200–1206.
   PubMed Web of Science ®Google Scholar
• Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS (1999). N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet.8: 971–976.
   PubMed Web of Science ®Google Scholar
• Ruiz P, Brinkmann V, Ledermann B, Behrend M, Grund C, Thalhammer C, Vogel F, Birchmeier C, Gunthert U, Franke WW, Birchmeier W (1996). Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol.135: 215–225.
   PubMed Web of Science ®Google Scholar
• Runswick SK, O'hare MJ, Jones L, Streuli CH, Garrod DR (2001). Desmosomal adhesion regulates epithelial morphogenesis and cell positioning. Nat Cell Biol.3: 823–830.
   PubMed Web of Science ®Google Scholar
• Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen L (2012). Analysis of a finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. Fam Cancer.11: 525–528.
   PubMed Web of Science ®Google Scholar
• Sahin U, Weskamp G, Kelly K, Zhou HM, Higashiyama S, Peschon J, Hartmann D, Saftig P, Blobel CP (2004). Distinct roles for ADAM10 and ADAM17 in ectodomain shedding of six EGFR ligands. J Cell Biol.164: 769–779.
   PubMed Web of Science ®Google Scholar
• Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A (1999). Mutations in ATP2A2, encoding a Ca2 + pump, cause Darier disease. Nat Genet.21: 271–277.
   PubMed Web of Science ®Google Scholar
• Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, Mclean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (2013). Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet.45: 1244–1248.
   PubMed Web of Science ®Google Scholar
• Savignac M, Simon M, Edir A, Guibbal L, Hovnanian A (2014). SERCA2 Dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat. J Invest Dermatol. Epub ahead of print. doi:.10.1038/jid.2014.8.
   Google Scholar
• Schafer S, Stumpp S, Franke WW (1996). Immunological identification and characterization of the desmosomal cadherin Dsg2 in coupled and uncoupled epithelial cells and in human tissues. Differentiation.60: 99–108.
   PubMed Web of Science ®Google Scholar
• Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM (2006). Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol.126: 1286–1291.
   PubMed Web of Science ®Google Scholar
• Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R, Franke WW (1997). Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res.290: 481–499.
   PubMed Web of Science ®Google Scholar
• Shimizu H, Masunaga T, Ishiko A, Kikuchi A, Hashimoto T, Nishikawa T (1995). Pemphigus vulgaris and pemphigus foliaceus sera show an inversely graded binding pattern to extracellular regions of desmosomes in different layers of human epidermis. J Invest Dermatol.105: 153–159.
   PubMed Web of Science ®Google Scholar
• Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M (2006). Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol.126: 1281–1285.
   PubMed Web of Science ®Google Scholar
• Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, Mckenna WJ, Behr ER, Crosby AH (2009). Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology.113: 28–34.
   PubMed Web of Science ®Google Scholar
• Sklyarova T, Bonne S, D'hooge P, Denecker G, Goossens S, De Rycke R., Borgonie G, Bosl M, Van Roy F, Van Hengel J (2008). Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation. J Invest Dermatol.128: 1375–1385.
   PubMed Web of Science ®Google Scholar
• Staehelin LA (1974). Structure and function of intercellular junctions. Int Rev Cytol.39: 191–283.
   PubMed Web of Science ®Google Scholar
• Stahley SN, Saito M, Faundez V, Koval M, Mattheyses AL, Kowalczyk AP (2014). Desmosome assembly and disassembly are membrane raft-dependent. PLoS One.9: e87809.
   PubMed Web of Science ®Google Scholar
• Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM (1996). Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol.132: 640–651.
   PubMed Web of Science ®Google Scholar
• Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, Mckenna WJ (2007). Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J.28: 581–588.
   PubMed Web of Science ®Google Scholar
• Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, Mckenna WJ (2006). Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet.79: 978–984.
   PubMed Web of Science ®Google Scholar
• Takeichi M (1990). Cadherins: a molecular family important in selective cell-cell adhesion. Annu Rev Biochem.59: 237–252.
   PubMed Web of Science ®Google Scholar
• Tanaka A, Lai-Cheong JE, Cafe ME, Gontijo B, Salomao PR, Pereira L, McGrath JA (2009). Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol.160: 692–697.
   PubMed Web of Science ®Google Scholar
• Thastrup O, Dawson AP, Scharff O, Foder B, Cullen PJ, Drobak BK, Bjerrum PJ, Christensen SB, Hanley MR (1989). Thapsigargin, a novel molecular probe for studying intracellular calcium release and storage. Agents Actions.27: 17–23.
   PubMedGoogle Scholar
• Tselepis C, Chidgey M, North A, Garrod D (1998). Desmosomal adhesion inhibits invasive behavior. Proc Natl Acad Sci USA.95: 8064–8069.
   PubMed Web of Science ®Google Scholar
• Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP, Wollnik B (2006). Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet.43: e05.
   Web of Science ®Google Scholar
• Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E (2001). Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol.3: 1076–1085.
   PubMed Web of Science ®Google Scholar
• Wahl JK, III (2005). A role for plakophilin-1 in the initiation of desmosome assembly. J Cell Biochem.96: 390–403.
   PubMed Web of Science ®Google Scholar
• Watt FM, Mattey DL, Garrod DR (1984). Calcium- induced reorganization of desmosomal components in cultured human keratinocytes. J Cell Biol.99: 2211–2215.
   PubMed Web of Science ®Google Scholar
• Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA (1999). Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol.113: 940–946.
   PubMed Web of Science ®Google Scholar
• Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, Mclean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA (2002). Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol.118: 232–238.
   PubMed Web of Science ®Google Scholar
• Yin T, Getsios S, Caldelari R, Kowalczyk AP, Muller EJ, Jones JCR, Green KJ (2005). Plakoglobin suppresses keratinocyte motility through both cell-cell adhesion-dependent and -independent mechanisms. Proc Natl Acad Sci U S A.102: 5420–5425.
   PubMed Web of Science ®Google Scholar
• Yin T, Green KJ (2004). Regulation of desmosome assembly and adhesion. Semin Cell Dev Biol.15: 665–677.
   PubMed Web of Science ®Google Scholar
• Yoshida H (2007). ER stress and diseases. FEBS J.274: 630–658.
   PubMed Web of Science ®Google Scholar
• Zheng R, Bu DF, Zhu XJ (2005). Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol.85: 394–399.
   PubMed Web of Science ®Google Scholar
• Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E (2006). An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol.126: 1292–1296.
   PubMed Web of Science ®Google Scholar