메뉴 건너뛰기




Volumn 30, Issue 3, 2005, Pages 261-266

Molecular abnormalities of the desmosomal protein desmoplakin in human disease

Author keywords

[No Author keywords available]

Indexed keywords

ARMADILLO PROTEIN; CADHERIN; CELL PROTEIN; DESMOPLAKIN; KERATIN; PLAKOGLOBIN; UNCLASSIFIED DRUG;

EID: 17444398948     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01736.x     Document Type: Review
Times cited : (33)

References (37)
  • 1
    • 0034923678 scopus 로고    scopus 로고
    • Desmosomes: Structure and function in normal and diseased epidermis
    • McMillan JR, Shimizu H. Desmosomes: structure and function in normal and diseased epidermis. J Dermatol 2001; 28: 291-8.
    • (2001) J Dermatol , vol.28 , pp. 291-298
    • McMillan, J.R.1    Shimizu, H.2
  • 2
    • 0035991944 scopus 로고    scopus 로고
    • Desmosomal adhesion: Structural basis, molecular mechanism and regulation
    • Garrod DR, Merritt AJ, Nie Z. Desmosomal adhesion: structural basis, molecular mechanism and regulation (Review). Mol Membr Biol 2002; 19: 81-94.
    • (2002) Mol Membr Biol , vol.19 , pp. 81-94
    • Garrod, D.R.1    Merritt, A.J.2    Nie, Z.3
  • 3
    • 0034568948 scopus 로고    scopus 로고
    • Are desmosomes more than tethers for intermediate filaments?
    • Green KJ, Gaudry CA. Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol 2000; 1: 208-16.
    • (2000) Nat Rev Mol Cell Biol , vol.1 , pp. 208-216
    • Green, K.J.1    Gaudry, C.A.2
  • 4
    • 1842733459 scopus 로고    scopus 로고
    • Working out the strength and flexibility of desmosomes
    • Getsios S, Huen AC, Green KJ. Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 2004; 5: 271-81.
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 271-281
    • Getsios, S.1    Huen, A.C.2    Green, K.J.3
  • 5
    • 0033491910 scopus 로고    scopus 로고
    • Molecular map of the desmosomal plaque
    • North AJ, Bardsley WG, Hyam J et al. Molecular map of the desmosomal plaque. J Cell Sci 1999; 112: 4325-36.
    • (1999) J Cell Sci , vol.112 , pp. 4325-4336
    • North, A.J.1    Bardsley, W.G.2    Hyam, J.3
  • 6
    • 0025700712 scopus 로고
    • Structure of the human desmoplakins. Implications for function in the desmosomal plaque
    • Green KJ. Parry DA, Steinert PM et al. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 1990; 265: 2603-12.
    • (1990) J Biol Chem , vol.265 , pp. 2603-2612
    • Green, K.J.1    Parry, D.A.2    Steinert, P.M.3
  • 7
    • 0027428693 scopus 로고
    • Functional analysis of desmoplakin domains: Specification of the interaction with keratin versus vimentin intermediate filament networks
    • Stappenbeck TS, Bornslaeger EA, Corcoran CM et al. Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks. J Cell Biol 1993; 123: 691-705.
    • (1993) J Cell Biol , vol.123 , pp. 691-705
    • Stappenbeck, T.S.1    Bornslaeger, E.A.2    Corcoran, C.M.3
  • 8
    • 0035066688 scopus 로고    scopus 로고
    • Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature
    • Gallicano GI, 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.
    • (2001) Development , vol.128 , pp. 929-941
    • Gallicano, G.I.1    Bauer, C.2    Fuchs, E.3
  • 9
    • 0022345716 scopus 로고
    • The complement of desmosomal plaque proteins in different cell types
    • Cowin P, Kapprell HP, Franke WW. The complement of desmosomal plaque proteins in different cell types. J Cell Biol 1985; 101: 1442-54.
    • (1985) J Cell Biol , vol.101 , pp. 1442-1454
    • Cowin, P.1    Kapprell, H.P.2    Franke, W.W.3
  • 10
    • 20644437528 scopus 로고    scopus 로고
    • Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage
    • Gallicano GI, Kouklis P, Bauer C et al. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 1998; 143: 2009-22.
    • (1998) J Cell Biol , vol.143 , pp. 2009-2022
    • Gallicano, G.I.1    Kouklis, P.2    Bauer, C.3
  • 11
    • 4344702122 scopus 로고    scopus 로고
    • Desmoplakin is required for microvascular tube formation in culture
    • Zhou X, Stuart A, Dettin LE et al. Desmoplakin is required for microvascular tube formation in culture. J Cell Sci 2004; 117: 3129-40.
    • (2004) J Cell Sci , vol.117 , pp. 3129-3140
    • Zhou, X.1    Stuart, A.2    Dettin, L.E.3
  • 12
    • 0032930569 scopus 로고    scopus 로고
    • Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
    • Armstrong DK, McKenna KE, Purkis PE et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999; 8: 143-8.
    • (1999) Hum Mol Genet , vol.8 , pp. 143-148
    • Armstrong, D.K.1    McKenna, K.E.2    Purkis, P.E.3
  • 13
    • 0033401667 scopus 로고    scopus 로고
    • Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
    • Whittock NV, Ashton GH, Dopping-Hepenstal PJ et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999; 113: 940-6.
    • (1999) J Invest Dermatol , vol.113 , pp. 940-946
    • Whittock, N.V.1    Ashton, G.H.2    Dopping-Hepenstal, P.J.3
  • 14
    • 0036093823 scopus 로고    scopus 로고
    • Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
    • Whittock NV, Smith FJ, Wan H et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 2002; 118: 838-44.
    • (2002) J Invest Dermatol , vol.118 , pp. 838-844
    • Whittock, N.V.1    Smith, F.J.2    Wan, H.3
  • 15
    • 0032970153 scopus 로고    scopus 로고
    • N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
    • Rickman L, Simrak D, Stevens HP et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8: 971-6.
    • (1999) Hum Mol Genet , vol.8 , pp. 971-976
    • Rickman, L.1    Simrak, D.2    Stevens, H.P.3
  • 16
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761-6.
    • (2000) Hum Mol Genet , vol.9 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3
  • 17
    • 0031717898 scopus 로고    scopus 로고
    • Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy
    • Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39: 418-21.
    • (1998) J Am Acad Dermatol , vol.39 , pp. 418-421
    • Carvajal-Huerta, L.1
  • 18
    • 0036178690 scopus 로고    scopus 로고
    • Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
    • Whittock NV, Wan H, Morley SM et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002; 118: 232-8.
    • (2002) J Invest Dermatol , vol.118 , pp. 232-238
    • Whittock, N.V.1    Wan, H.2    Morley, S.M.3
  • 19
    • 18644363134 scopus 로고    scopus 로고
    • Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
    • Rampazzo A, Nava A, Malacrida S et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002; 71: 1200-6.
    • (2002) Am J Hum Genet , vol.71 , pp. 1200-1206
    • Rampazzo, A.1    Nava, A.2    Malacrida, S.3
  • 20
    • 0037811950 scopus 로고    scopus 로고
    • A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
    • Alcalai R, Metzger S, Rosenheck S et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 2003; 42: 319-27.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 319-327
    • Alcalai, R.1    Metzger, S.2    Rosenheck, S.3
  • 21
    • 0025650330 scopus 로고
    • Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia
    • Anhalt GJ, Kim S, Stanley JR et al. Paraneoplastic pemphigus. An autoimmune mucocutaneous disease associated with neoplasia. N Engl J Med 1990; 323: 1729-35.
    • (1990) N Engl J Med , vol.323 , pp. 1729-1735
    • Anhalt, G.J.1    Kim, S.2    Stanley, J.R.3
  • 22
    • 0026776369 scopus 로고
    • Human autoantibodies against desmoplakins in paraneoplastic pemphigus
    • Oursler JR, Labib RS, Ariss-Abdo L et al. Human autoantibodies against desmoplakins in paraneoplastic pemphigus. J Clin Invest 1992; 89: 1775-82.
    • (1992) J Clin Invest , vol.89 , pp. 1775-1782
    • Oursler, J.R.1    Labib, R.S.2    Ariss-Abdo, L.3
  • 23
    • 0142120489 scopus 로고    scopus 로고
    • Internalization via plasmalemmal vesicles: A route for antidesmoplakin antibodies into cultured human keratinocytes
    • Cauza K, Hinterhuber G, Mann U et al. Internalization via plasmalemmal vesicles: a route for antidesmoplakin antibodies into cultured human keratinocytes. Exp Dermatol 2003; 12: 546-54.
    • (2003) Exp Dermatol , vol.12 , pp. 546-554
    • Cauza, K.1    Hinterhuber, G.2    Mann, U.3
  • 24
    • 0031662899 scopus 로고    scopus 로고
    • Antibodies to desmoplakin in a patient with pemphigus foliaceous
    • Jiao D, Bystryn J. Antibodies to desmoplakin in a patient with pemphigus foliaceous. J Eur Acad Dermatol Venereol 1998; 11: 169-72.
    • (1998) J Eur Acad Dermatol Venereol , vol.11 , pp. 169-172
    • Jiao, D.1    Bystryn, J.2
  • 25
    • 0028919212 scopus 로고
    • Autoantibodies to desmoplakin I and II in patients with erythema multiforme
    • Foedinger D, Anhalt GJ, Boecskoer B et al. Autoantibodies to desmoplakin I and II in patients with erythema multiforme. J Exp Med 1995; 181: 169-79.
    • (1995) J Exp Med , vol.181 , pp. 169-179
    • Foedinger, D.1    Anhalt, G.J.2    Boecskoer, B.3
  • 26
    • 0028019619 scopus 로고
    • A case of bullous pemphigoid with antidesmoplakin autoantibodies
    • Hashimoto T, Watanabe K, Ishiko A et al. A case of bullous pemphigoid with antidesmoplakin autoantibodies. Br J Dermatol 1994; 131: 694-9.
    • (1994) Br J Dermatol , vol.131 , pp. 694-699
    • Hashimoto, T.1    Watanabe, K.2    Ishiko, A.3
  • 27
    • 3042784256 scopus 로고    scopus 로고
    • Mucosal dominant pemphigus vulgaris with anti-desmoplakin autoantibodies
    • Mimouni D, Foedinger D, Kouba DJ et al. Mucosal dominant pemphigus vulgaris with anti-desmoplakin autoantibodies. J Am Acad Dermatol 2004; 51: 62-7.
    • (2004) J Am Acad Dermatol , vol.51 , pp. 62-67
    • Mimouni, D.1    Foedinger, D.2    Kouba, D.J.3
  • 28
    • 3142731951 scopus 로고    scopus 로고
    • Epidermal growth factor suppresses induction by progestin of the adhesion protein desmoplakin in T47D breast cancer cells
    • Pang H, Rowan BG, Al-Dhaheri M et al. Epidermal growth factor suppresses induction by progestin of the adhesion protein desmoplakin in T47D breast cancer cells. Breast Can Res 2004; 6: 239-45.
    • (2004) Breast Can Res , vol.6 , pp. 239-245
    • Pang, H.1    Rowan, B.G.2    Al-Dhaheri, M.3
  • 29
    • 0032553304 scopus 로고    scopus 로고
    • Convergence of progesterone and epidermal growth factor signaling in breast cancer. Potentiation of mitogen-activated protein kinase pathways
    • Lange CA, Richer JK, Shen T et al. Convergence of progesterone and epidermal growth factor signaling in breast cancer. Potentiation of mitogen-activated protein kinase pathways. J Biol Chem 1998; 47: 31308-16.
    • (1998) J Biol Chem , vol.47 , pp. 31308-31316
    • Lange, C.A.1    Richer, J.K.2    Shen, T.3
  • 30
    • 0032553553 scopus 로고    scopus 로고
    • Convergence of progesterone with growth factor and cytokine signaling in breast in breast cancer. Progesterone receptors regulate signal transducers and activators of transcription expression and activity
    • Richer JK, Lange CA, Manning NG et al. Convergence of progesterone with growth factor and cytokine signaling in breast in breast cancer. Progesterone receptors regulate signal transducers and activators of transcription expression and activity. J Biol Chem 1998; 273: 31317-26.
    • (1998) J Biol Chem , vol.273 , pp. 31317-31326
    • Richer, J.K.1    Lange, C.A.2    Manning, N.G.3
  • 31
    • 4344680669 scopus 로고    scopus 로고
    • Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells
    • Lorch JH, Klessner J, Park JK et al. Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells. J Biol Chem 2004; 279: 37191-200.
    • (2004) J Biol Chem , vol.279 , pp. 37191-37200
    • Lorch, J.H.1    Klessner, J.2    Park, J.K.3
  • 32
    • 11144353573 scopus 로고    scopus 로고
    • Proteomic analysis of exosomes secreted by human mesothelioma cells
    • Hegmans JP, Bard MP, Hemmes A et al. Proteomic analysis of exosomes secreted by human mesothelioma cells. Am J Pathol 2004; 164: 1807-15.
    • (2004) Am J Pathol , vol.164 , pp. 1807-1815
    • Hegmans, J.P.1    Bard, M.P.2    Hemmes, A.3
  • 33
    • 0026755162 scopus 로고
    • Comparative structural analysis of desmoplakin, bullous pemphigoid antigen and plectin: Members of a new gene family involved in organization of intermediate filaments
    • Green KJ, Virata ML, Elgart GW et al. Comparative structural analysis of desmoplakin, bullous pemphigoid antigen and plectin: members of a new gene family involved in organization of intermediate filaments. Int J Biol Macromol 1992; 14: 145-53.
    • (1992) Int J Biol Macromol , vol.14 , pp. 145-153
    • Green, K.J.1    Virata, M.L.2    Elgart, G.W.3
  • 34
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    • Tiso N, Stephan DA, Nava A et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10: 189-94.
    • (2001) Hum Mol Genet , vol.10 , pp. 189-194
    • Tiso, N.1    Stephan, D.A.2    Nava, A.3
  • 35
    • 11444264507 scopus 로고    scopus 로고
    • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    • Gerull B, Heuser A, Wichter T et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004; 36: 1162-4.
    • (2004) Nat Genet , vol.36 , pp. 1162-1164
    • Gerull, B.1    Heuser, A.2    Wichter, T.3
  • 36
    • 84984774604 scopus 로고    scopus 로고
    • Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
    • McGrath JA, McMillan JR, Shemanko CS et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997; 17: 240-4.
    • (1997) Nat Genet , vol.17 , pp. 240-244
    • McGrath, J.A.1    McMillan, J.R.2    Shemanko, C.S.3
  • 37
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
    • McKoy G, Protonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355: 2119-24.
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.