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Volumn 37, Issue 1, 2005, Pages 56-65

Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity

Author keywords

[No Author keywords available]

Indexed keywords

DESMOGLEIN 1; LYMPHOEPITHELIAL KAZAL TYPE RELATED INHIBITOR PROTEIN; PROFILAGGRIN; SERINE PROTEINASE INHIBITOR; SERINE PROTEINASE INHIBITOR KAZAL 5 PROTEIN; UNCLASSIFIED DRUG;

EID: 19944427605     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1493     Document Type: Article
Times cited : (329)

References (50)
  • 1
    • 78651200573 scopus 로고
    • Ichtyosis Linearis circumflexa
    • Comel, M. Ichtyosis Linearis circumflexa. Dermatologica 98, 133-136 (1949).
    • (1949) Dermatologica , vol.98 , pp. 133-136
    • Comel, M.1
  • 2
    • 70449210905 scopus 로고
    • A unique case of Trichorrexis Invaginata
    • Netherton, E.W. A unique case of Trichorrexis Invaginata. Arch. Dermatol. 78, 483-487 (1958).
    • (1958) Arch. Dermatol. , vol.78 , pp. 483-487
    • Netherton, E.W.1
  • 4
    • 0029886303 scopus 로고    scopus 로고
    • Severe congenital generalized exfoliative erythroderma in newborns and infants: A possible sign of Netherton syndrome
    • Hausser, I. & Anton-Lamprecht, I. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr. Dermatol. 13, 183-199 (1996).
    • (1996) Pediatr. Dermatol. , vol.13 , pp. 183-199
    • Hausser, I.1    Anton-Lamprecht, I.2
  • 5
    • 0028077645 scopus 로고
    • A clinical and immunological study of Netherton's syndrome
    • Judge, M.R., Morgan, G. & Harper, J.I. A clinical and immunological study of Netherton's syndrome. Br. J. Dermatol. 131, 615-621 (1994).
    • (1994) Br. J. Dermatol. , vol.131 , pp. 615-621
    • Judge, M.R.1    Morgan, G.2    Harper, J.I.3
  • 7
    • 0035057938 scopus 로고    scopus 로고
    • Clinico-immunological heterogeneity in Comel-Netherton syndrome
    • Van Gysel, D. et al. Clinico-immunological heterogeneity in Comel-Netherton syndrome. Dermatology 202, 99-107 (2001).
    • (2001) Dermatology , vol.202 , pp. 99-107
    • Van Gysel, D.1
  • 8
    • 0026265525 scopus 로고
    • Structural and lipid biochemical correlates of the epidermal permeability barrier
    • Elias, P.M. & Menon, G.K. Structural and lipid biochemical correlates of the epidermal permeability barrier. Adv. Lipid Res. 24, 1-26 (1991).
    • (1991) Adv. Lipid Res. , vol.24 , pp. 1-26
    • Elias, P.M.1    Menon, G.K.2
  • 9
    • 0028326630 scopus 로고
    • The role of proteases in stratum corneum: Involvement in stratum corneum desquamation
    • Suzuki, Y., Nomura, J., Koyama, J. & Horii, I. The role of proteases in stratum corneum: involvement in stratum corneum desquamation. Arch. Dermatol. Res. 286, 249-253 (1994).
    • (1994) Arch. Dermatol. Res. , vol.286 , pp. 249-253
    • Suzuki, Y.1    Nomura, J.2    Koyama, J.3    Horii, I.4
  • 10
    • 0032588114 scopus 로고    scopus 로고
    • Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome
    • Fartasch, M., Williams, M.L. & Elias, P.M. Altered lamellar body secretion and stratum corneum membrane structure in Netherton syndrome. Arch. Dermatol. 135, 823-832 (1999).
    • (1999) Arch. Dermatol. , vol.135 , pp. 823-832
    • Fartasch, M.1    Williams, M.L.2    Elias, P.M.3
  • 11
    • 0029973529 scopus 로고    scopus 로고
    • Netherton's syndrome: A severe neonatal disease. A case report
    • De Wolf, K. et al. Netherton's syndrome: a severe neonatal disease. A case report. Dermatology 192, 400-402 (1996).
    • (1996) Dermatology , vol.192 , pp. 400-402
    • De Wolf, K.1
  • 13
    • 0034120666 scopus 로고    scopus 로고
    • Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
    • Chavanas, S. et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat. Genet. 25, 141-142 (2000).
    • (2000) Nat. Genet. , vol.25 , pp. 141-142
    • Chavanas, S.1
  • 14
    • 0036174691 scopus 로고    scopus 로고
    • Netherton syndrome: Disease expression and spectrum of SPINK 5 mutations in 21 families
    • Bitoun, E. et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J. Invest. Dermatol. 118, 352-361 (2002).
    • (2002) J. Invest. Dermatol. , vol.118 , pp. 352-361
    • Bitoun, E.1
  • 15
    • 0035723116 scopus 로고    scopus 로고
    • The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis
    • Sprecher, E. et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J. Invest. Dermatol. 117, 179-187 (2001).
    • (2001) J. Invest. Dermatol. , vol.117 , pp. 179-187
    • Sprecher, E.1
  • 16
    • 0039702803 scopus 로고    scopus 로고
    • LEKTI, a novel 15-domain type of human serine proteinase inhibitor
    • Magert, H.J. et al. LEKTI, a novel 15-domain type of human serine proteinase inhibitor. J. Biol. Chem. 274, 21499-21502 (1999).
    • (1999) J. Biol. Chem. , vol.274 , pp. 21499-21502
    • Magert, H.J.1
  • 17
    • 10744224015 scopus 로고    scopus 로고
    • LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
    • Bitoun, E. et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum. Mol. Genet. 12, 2417-2430 (2003).
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2417-2430
    • Bitoun, E.1
  • 18
    • 0037426357 scopus 로고    scopus 로고
    • Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: A kinetic analysis
    • Mitsudo, K. et al. Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: a kinetic analysis. Biochemistry 42, 3874-3881 (2003).
    • (2003) Biochemistry , vol.42 , pp. 3874-3881
    • Mitsudo, K.1
  • 19
    • 4444223718 scopus 로고    scopus 로고
    • Expression of LEKTI domains 6-9′ in the baculovirus expression system: Recombinant LEKTI domains 6-9′ inhibit trypsin and subtilisin A
    • Jayakumar, A. et al. Expression of LEKTI domains 6-9′ in the baculovirus expression system: recombinant LEKTI domains 6-9′ inhibit trypsin and subtilisin A. Protein Expr. Purif. 35, 93-101 (2004).
    • (2004) Protein Expr. Purif. , vol.35 , pp. 93-101
    • Jayakumar, A.1
  • 20
    • 0036125197 scopus 로고    scopus 로고
    • Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides
    • Komatsu, N. et al. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides. J. Invest. Dermatol. 118, 436-443 (2002).
    • (2002) J. Invest. Dermatol. , vol.118 , pp. 436-443
    • Komatsu, N.1
  • 21
    • 4143130046 scopus 로고    scopus 로고
    • SPINK5 and Netherton syndrome: Novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases
    • Raghunath, M. et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J. Invest. Dermatol. 123, 474-483 (2004).
    • (2004) J. Invest. Dermatol. , vol.123 , pp. 474-483
    • Raghunath, M.1
  • 22
    • 0031865846 scopus 로고    scopus 로고
    • Patterned acquisition of skin barrier function during development
    • Hardman, M.J., Sisi, P., Banbury, D.N. & Byrne, C. Patterned acquisition of skin barrier function during development. Development 125, 1541-1552 (1998).
    • (1998) Development , vol.125 , pp. 1541-1552
    • Hardman, M.J.1    Sisi, P.2    Banbury, D.N.3    Byrne, C.4
  • 23
    • 0034128648 scopus 로고    scopus 로고
    • Stratum corneum tryptic enzyme in normal epidermis: A missing link in the desquamation process?
    • Ekholm, I.E., Brattsand, M. & Egelrud, T. Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process? J. Invest. Dermatol. 114, 56-63 (2000).
    • (2000) J. Invest. Dermatol. , vol.114 , pp. 56-63
    • Ekholm, I.E.1    Brattsand, M.2    Egelrud, T.3
  • 24
    • 0029831031 scopus 로고    scopus 로고
    • Antileukoprotease inhibits stratum corneum chymotryptic enzyme. Evidence for a regulative function in desquamation
    • Franzke, C.W., Baici, A., Bartels, J., Christophers, E. & Wiedow, O. Antileukoprotease inhibits stratum corneum chymotryptic enzyme. Evidence for a regulative function in desquamation. J. Biol. Chem. 271, 21886-21890 (1996).
    • (1996) J. Biol. Chem. , vol.271 , pp. 21886-21890
    • Franzke, C.W.1    Baici, A.2    Bartels, J.3    Christophers, E.4    Wiedow, O.5
  • 26
    • 0013254299 scopus 로고    scopus 로고
    • A novel mouse desmosomal cadherin family member, desmoglein 1 gamma
    • Kljuic, A. & Christiano, A.M. A novel mouse desmosomal cadherin family member, desmoglein 1 gamma. Exp. Dermatol. 12, 20-29 (2003).
    • (2003) Exp. Dermatol. , vol.12 , pp. 20-29
    • Kljuic, A.1    Christiano, A.M.2
  • 27
    • 19944431526 scopus 로고    scopus 로고
    • LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum
    • in the press
    • Ishida-Yamamoto, A. et al. LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J. Invest. Dermatol. (in the press).
    • J. Invest. Dermatol.
    • Ishida-Yamamoto, A.1
  • 28
    • 0027956112 scopus 로고
    • Cloning, expression, and characterization of stratum corneum chymotryptic enzyme. A skin-specific human serine proteinase
    • Hansson, L. et al. Cloning, expression, and characterization of stratum corneum chymotryptic enzyme. A skin-specific human serine proteinase. J. Biol. Chem. 269, 19420-19426 (1994).
    • (1994) J. Biol. Chem. , vol.269 , pp. 19420-19426
    • Hansson, L.1
  • 29
    • 0033569724 scopus 로고    scopus 로고
    • Purification, molecular cloning, and expression of a human stratum corneum trypsin-like serine protease with possible function in desquamation
    • Brattsand, M. & Egelrud, T. Purification, molecular cloning, and expression of a human stratum corneum trypsin-like serine protease with possible function in desquamation. J. Biol. Chem. 274, 30033-30040 (1999).
    • (1999) J. Biol. Chem. , vol.274 , pp. 30033-30040
    • Brattsand, M.1    Egelrud, T.2
  • 30
    • 2442428082 scopus 로고    scopus 로고
    • Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK 7
    • Caubet, C. et al. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J. Invest. Dermatol. 122, 1235-1244 (2004).
    • (2004) J. Invest. Dermatol. , vol.122 , pp. 1235-1244
    • Caubet, C.1
  • 31
    • 0037149051 scopus 로고    scopus 로고
    • The 15-domain serine proteinase inhibitor LEKTI: Biochemical properties, genomic organization, and pathophysiological role
    • Magert, H.J. et al. The 15-domain serine proteinase inhibitor LEKTI: biochemical properties, genomic organization, and pathophysiological role. Eur. J. Med. Res. 7, 49-56 (2002).
    • (2002) Eur. J. Med. Res. , vol.7 , pp. 49-56
    • Magert, H.J.1
  • 32
    • 0036218154 scopus 로고    scopus 로고
    • LEKTI: A multidomain serine proteinase inhibitor with pathophysiological relevance
    • Magert, H.J. et al. LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance. Int. J. Biochem. Cell Biol. 34, 573-576 (2002).
    • (2002) Int. J. Biochem. Cell Biol. , vol.34 , pp. 573-576
    • Magert, H.J.1
  • 33
    • 1542719189 scopus 로고    scopus 로고
    • Recombinant production, purification and biochemical characterization of domain 6 of LEKTI: A temporary Kazal-type-related serine proteinase inhibitor
    • Kreutzmann, P., Schulz, A., Standker, L., Forssmann, W.G. & Magert, H.J. Recombinant production, purification and biochemical characterization of domain 6 of LEKTI: a temporary Kazal-type-related serine proteinase inhibitor. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 803, 75-81 (2004).
    • (2004) J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. , vol.803 , pp. 75-81
    • Kreutzmann, P.1    Schulz, A.2    Standker, L.3    Forssmann, W.G.4    Magert, H.J.5
  • 34
    • 0033710565 scopus 로고    scopus 로고
    • Toxin in bullous impetigo and staphylococcal scalded-skin syndrome targets desmoglein 1
    • Amagai, M., Matsuyoshi, N., Wang, Z.H., Andl, C. & Stanley, J.R. Toxin in bullous impetigo and staphylococcal scalded-skin syndrome targets desmoglein 1. Nat. Med. 6, 1275-1277 (2000).
    • (2000) Nat. Med. , vol.6 , pp. 1275-1277
    • Amagai, M.1    Matsuyoshi, N.2    Wang, Z.H.3    Andl, C.4    Stanley, J.R.5
  • 35
    • 0032923387 scopus 로고    scopus 로고
    • The anti-desmoglein 1 autoantibodies in pemphigus vulgaris sera are pathogenic
    • Ding, X., Diaz, L.A., Fairley, J.A., Giudice, G.J. & Liu, Z. The anti-desmoglein 1 autoantibodies in pemphigus vulgaris sera are pathogenic. J. Invest. Dermatol. 112, 739-743 (1999).
    • (1999) J. Invest. Dermatol. , vol.112 , pp. 739-743
    • Ding, X.1    Diaz, L.A.2    Fairley, J.A.3    Giudice, G.J.4    Liu, Z.5
  • 37
    • 0031465982 scopus 로고    scopus 로고
    • Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes
    • Simon, M., Montezin, M., Guerrin, M., Durieux, J.J. & Serre, G. Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes, J. Biol. Chem. 272, 31770-31776 (1997).
    • (1997) J. Biol. Chem. , vol.272 , pp. 31770-31776
    • Simon, M.1    Montezin, M.2    Guerrin, M.3    Durieux, J.J.4    Serre, G.5
  • 38
    • 0037941582 scopus 로고    scopus 로고
    • Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
    • Levy-Nissenbaum, E. et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat. Genet. 34, 151-153 (2003).
    • (2003) Nat. Genet. , vol.34 , pp. 151-153
    • Levy-Nissenbaum, E.1
  • 39
    • 4644254787 scopus 로고    scopus 로고
    • -/- mice
    • -/- mice. Genes Dev. 18, 2354-2358 (2004).
    • (2004) Genes Dev. , vol.18 , pp. 2354-2358
    • Yang, T.1
  • 40
    • 1442323635 scopus 로고    scopus 로고
    • The epidermal permeability barrier: From the early days at Harvard to emerging concepts
    • Elias, P.M. The epidermal permeability barrier: from the early days at Harvard to emerging concepts. J. Invest. Dermatol. 122, vi-ix (2004).
    • (2004) J. Invest. Dermatol. , vol.122
    • Elias, P.M.1
  • 41
    • 0036157925 scopus 로고    scopus 로고
    • Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1
    • Kuramoto, N. et al. Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1. J. Clin. Invest. 109, 243-250 (2002).
    • (2002) J. Clin. Invest. , vol.109 , pp. 243-250
    • Kuramoto, N.1
  • 42
    • 0037128938 scopus 로고    scopus 로고
    • Claudin-based tight junctions are crucial for the mammalian epidermal barrier: A lesson from claudin-1-deficient mice
    • Furuse, M. et al. Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice. J. Cell Biol. 156, 1099-1111 (2002).
    • (2002) J. Cell Biol. , vol.156 , pp. 1099-1111
    • Furuse, M.1
  • 43
    • 0032813661 scopus 로고    scopus 로고
    • Klf4 is a transcription factor required for establishing the barrier function of the skin
    • Segre, J.A., Bauer, C. & Fuchs, E. Klf4 is a transcription factor required for establishing the barrier function of the skin. Nat. Genet. 22, 356-360 (1999).
    • (1999) Nat. Genet. , vol.22 , pp. 356-360
    • Segre, J.A.1    Bauer, C.2    Fuchs, E.3
  • 44
    • 0345166962 scopus 로고    scopus 로고
    • Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1
    • List, K. et al. Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1. J. Cell Biol. 163, 901-910 (2003).
    • (2003) J. Cell Biol. , vol.163 , pp. 901-910
    • List, K.1
  • 46
    • 0014598217 scopus 로고
    • Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa
    • Stevanovic, D.V. Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa. Br. J. Dermatol. 81, 851-857 (1969).
    • (1969) Br. J. Dermatol. , vol.81 , pp. 851-857
    • Stevanovic, D.V.1
  • 47
    • 0021237498 scopus 로고
    • Pathogenesis in trichorrhexis invaginata (bamboo hair)
    • Ito, M., Ito, K. & Hashimoto, K. Pathogenesis in trichorrhexis invaginata (bamboo hair). J. Invest. Dermatol. 83, 1-6 (1984).
    • (1984) J. Invest. Dermatol. , vol.83 , pp. 1-6
    • Ito, M.1    Ito, K.2    Hashimoto, K.3
  • 48
    • 0030015434 scopus 로고    scopus 로고
    • Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice
    • van der Neut, R., Krimpenfort, P., Calafat, J., Niessen, C.M. & Sonnenberg, A. Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice. Nat. Genet. 13, 366-369 (1996).
    • (1996) Nat. Genet. , vol.13 , pp. 366-369
    • Van Der Neut, R.1    Krimpenfort, P.2    Calafat, J.3    Niessen, C.M.4    Sonnenberg, A.5
  • 49
    • 0021714160 scopus 로고
    • Identification of two intermediates during processing of profilaggrin to filaggrin in neonatal mouse epidermis
    • Resing, K.A., Walsh, K.A. & Dale, B.A. Identification of two intermediates during processing of profilaggrin to filaggrin in neonatal mouse epidermis. J. Cell Biol. 99, 1372-1378 (1984).
    • (1984) J. Cell Biol. , vol.99 , pp. 1372-1378
    • Resing, K.A.1    Walsh, K.A.2    Dale, B.A.3
  • 50
    • 0023814557 scopus 로고
    • New techniques for the grafting of cultured human epidermal cells onto athymic animals
    • Barrandon, Y., Li, V. & Green, H. New techniques for the grafting of cultured human epidermal cells onto athymic animals. J. Invest. Dermatol. 91, 315-318 (1988).
    • (1988) J. Invest. Dermatol. , vol.91 , pp. 315-318
    • Barrandon, Y.1    Li, V.2    Green, H.3


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