메뉴 건너뛰기




Volumn 205, Issue 4-5, 2002, Pages 542-551

Mechanisms of C1-inhibitor deficiency

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; BRADYKININ; COMPLEMENT COMPONENT C1; COMPLEMENT INHIBITOR; SERINE PROTEINASE; SERINE PROTEINASE INHIBITOR;

EID: 0036747263     PISSN: 01712985     EISSN: None     Source Type: Journal    
DOI: 10.1078/0171-2985-00153     Document Type: Article
Times cited : (39)

References (51)
  • 2
    • 0034523345 scopus 로고    scopus 로고
    • Phylogeny of the serpin superfamily: Implications of patterns of amino acid conservation for structure and function
    • IRVING, J. A., R. N. PIKE, A. M. LESK, and J. C. WHISSTOCK. 2000. Phylogeny of the serpin superfamily: implications of patterns of amino acid conservation for structure and function. Genome Res. 10: 1845.
    • (2000) Genome Res , vol.10 , pp. 1845
    • Irving, J.A.1    Pike, R.N.2    Lesk, A.M.3    Whisstock, J.C.4
  • 3
    • 0027182969 scopus 로고
    • Effects of mutations in the hinge region of serpins
    • HOPKINS, P. C., R. W. CARRELL, and S. R. STONE. 1993. Effects of mutations in the hinge region of serpins. Biochemistry 32: 7650.
    • (1993) Biochemistry , vol.32 , pp. 7650
    • Hopkins, P.C.1    Carrell, R.W.2    Stone, S.R.3
  • 4
    • 0034283174 scopus 로고    scopus 로고
    • Conformational changes in serpins: II. The mechanism of activation of antithrombin by heparindagger
    • WHISSTOCK, J. C., R. N. PIKE, L. JIN, R. SKINNER, X. Y. PEI, R. W. CARRELL, and A. M. LESK. 2000. Conformational changes in serpins: II. The mechanism of activation of antithrombin by heparindagger. J. Mol. Biol. 301: 1287.
    • (2000) J. Mol. Biol , vol.301 , pp. 1287
    • Whisstock, J.C.1    Pike, R.N.2    Jin, L.3    Skinner, R.4    Pei, X.Y.5    Carrell, R.W.6    Lesk, A.M.7
  • 5
    • 0029589824 scopus 로고
    • What do dysfunctional serpins tell us about molecular mobility and disease?
    • STEIN, P. E., and R. W. CARRELL. 1995. What do dysfunctional serpins tell us about molecular mobility and disease? Nat. Struct. Biol. 2: 96.
    • (1995) Nat. Struct. Biol , vol.2 , pp. 96
    • Stein, P.E.1    Carrell, R.W.2
  • 6
    • 0035952980 scopus 로고    scopus 로고
    • Conformational properties of serine proteinase inhibitors (serpins) confer multiple pathophysiological roles
    • 1535
    • JANCIAUSKIENE, S. 2001. Conformational properties of serine proteinase inhibitors (serpins) confer multiple pathophysiological roles. Biochim. Biophys. Acta 1535: 221.
    • (2001) Biochim. Biophys. Acta , pp. 221
    • Janciauskiene, S.1
  • 7
    • 0037011795 scopus 로고    scopus 로고
    • Alpha 1-antitrypsin deficiency - A model for conformational diseases
    • CARRELL, R. W., and D. A. LOMAS. 2002. Alpha 1-antitrypsin deficiency - a model for conformational diseases. N. Engl. J. Med. 346: 45.
    • (2002) N. Engl. J. Med , vol.346 , pp. 45
    • Carrell, R.W.1    Lomas, D.A.2
  • 8
    • 0024146204 scopus 로고
    • C1 inhibitor and hereditary angioneurotic edema
    • DAVIS, A. E. 1988. C1 inhibitor and hereditary angioneurotic edema. Annu Rev Immunol 6: 595.
    • (1988) Annu. Rev. Immunol , vol.6 , pp. 595
    • Davis, A.E.1
  • 9
    • 84939576316 scopus 로고    scopus 로고
    • Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and -2
    • Rossi, V., S. CSEH, I. BALLY, N. M. THIELENS, J. C. JENSENIUS, and G. J. ARLAUD. 2001. Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and -2. J. Biol. Chem. 29: 29.
    • (2001) J. Biol. Chem , vol.29 , pp. 29
    • Rossi, V.1    Cseh, S.2    Bally, I.3    Thielens, N.M.4    Jensenius, J.C.5    Arlaud, G.J.6
  • 12
    • 0031570956 scopus 로고    scopus 로고
    • Role of the P2 residue of complement 1 inhibitor (Ala443) in determination of target protease specificity: Inhibition of complement and contact system proteases
    • ZAHEDI, R., J. WISNIESKI, and A. E. DAVIS. 1997. Role of the P2 residue of complement 1 inhibitor (Ala443) in determination of target protease specificity: inhibition of complement and contact system proteases. J. Immunol. 159: 983.
    • (1997) J. Immunol , vol.159 , pp. 983
    • Zahedi, R.1    Wisnieski, J.2    Davis, A.E.3
  • 14
    • 0034640383 scopus 로고    scopus 로고
    • C1 inhibitor cross-linking by tissue transglutaminase
    • HAUERT, J., P. A. PATSTON, and M. SCHAPIRA. 2000. C1 inhibitor cross-linking by tissue transglutaminase. J. Biol. Chem. 275: 14558.
    • (2000) J. Biol. Chem , vol.275 , pp. 14558
    • Hauert, J.1    Patston, P.A.2    Schapira, M.3
  • 15
    • 0015213073 scopus 로고
    • C1 inhibitor: Evidence for decreased hepatic synthesis in hereditary angioneurotic edema
    • JOHNSON, A. M., C. A. ALPER, F. S. ROSEN, and J. M. CRAIG. 1971. C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema. Science 173: 553.
    • (1971) Science , vol.173 , pp. 553
    • Johnson, A.M.1    Alper, C.A.2    Rosen, F.S.3    Craig, J.M.4
  • 16
    • 0021908669 scopus 로고
    • Complement-subcomponent-C1-inhibitor synthesis by human monocytes
    • YEUNG LAIWAH, A. C., L. JONES, A. O. HAMILTON, and K. WHALEY. 1985. Complement-subcomponent-C1-inhibitor synthesis by human monocytes. Biochem. J. 226: 199.
    • (1985) Biochem. J , vol.226 , pp. 199
    • Yeung Laiwah, A.C.1    Jones, L.2    Hamilton, A.O.3    Whaley, K.4
  • 17
    • 0024601129 scopus 로고
    • Synthesis and regulation of C1 inhibitor in human skin fibroblasts
    • KATZ, Y., and R. C. STRUNK. 1989. Synthesis and regulation of C1 inhibitor in human skin fibroblasts. J. Immunol. 142: 2041.
    • (1989) J. Immunol , vol.142 , pp. 2041
    • Katz, Y.1    Strunk, R.C.2
  • 20
    • 84941824605 scopus 로고
    • Meningococcemia and acquired complement deficiency. Association in patients with hepatic failure
    • ELLISON, R., S. MASON, P. KOHLER, J. CURD, and L. RELLER. 1986. Meningococcemia and acquired complement deficiency. Association in patients with hepatic failure. Arch. Intern. Med. 146: 1539.
    • (1986) Arch. Intern. Med , vol.146 , pp. 1539
    • Ellison, R.1    Mason, S.2    Kohler, P.3    Curd, J.4    Reller, L.5
  • 21
    • 50549190821 scopus 로고
    • A Biochemical Abnormality in Herediatry Angioneurotic Edema: Absence of Serum Inhibitor of C′ 1-Esterase
    • DONALDSON, V. H., and R. R. EVANS. 1963. A Biochemical Abnormality in Herediatry Angioneurotic Edema: Absence of Serum Inhibitor of C′ 1-Esterase. Am. J. Sci. 31: 37.
    • (1963) Am. J. Sci , vol.31 , pp. 37
    • Donaldson, V.H.1    Evans, R.R.2
  • 23
    • 0011210621 scopus 로고
    • Human inhibitor of the first component of complement, C1: Characterization of cDNA clones and localization of the gene to chromosome 11
    • DAVIS, A. E., A. S. WHITEHEAD, R. A. HARRISON, A. DAUPHINAIS, G. A. BRUNS, M. CICARDI, and F. S. ROSEN. 1986. Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. Proc. Natl. Acad. Sci. USA 83: 3161.
    • (1986) Proc. Natl. Acad. Sci. USA , vol.83 , pp. 3161
    • Davis, A.E.1    Whitehead, A.S.2    Harrison, R.A.3    Dauphinais, A.4    Bruns, G.A.5    Cicardi, M.6    Rosen, F.S.7
  • 24
    • 0022489559 scopus 로고
    • Molecular cloning of human C1 inhibitor: Sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily
    • TOSI, M., C. DUPONCHEL, P. BOURGAREL, M. COLOMB, and T. MEO. 1986. Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily. Gene 42: 265.
    • (1986) Gene , vol.42 , pp. 265
    • Tosi, M.1    Duponchel, C.2    Bourgarel, P.3    Colomb, M.4    Meo, T.5
  • 26
    • 0023490563 scopus 로고
    • Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema
    • CICARDI, M., T. IGARASHI, M. S. KIM, D. FRANGI, A. AGOSTONI, and A. E. DAVIS. 1987. Restriction fragment length polymorphism of the C1 inhibitor gene in hereditary angioneurotic edema. J. Clin. Invest. 80: 1640.
    • (1987) J. Clin. Invest , vol.80 , pp. 1640
    • Cicardi, M.1    Igarashi, T.2    Kim, M.S.3    Frangi, D.4    Agostoni, A.5    Davis, A.E.6
  • 27
    • 0035125698 scopus 로고    scopus 로고
    • A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations
    • BOWEN, B., J. J. HAWK, S. SIBUNKA, S. HOVICK, and J. M. WEILER. 2001. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin. Immunol. 98: 157.
    • (2001) Clin. Immunol , vol.98 , pp. 157
    • Bowen, B.1    Hawk, J.J.2    Sibunka, S.3    Hovick, S.4    Weiler, J.M.5
  • 28
    • 0000612630 scopus 로고
    • Hereditary Angioneurotic Edema: Two Genetic Variants
    • ROSEN, F., S., J. PENSKY, V. DONALDSON, and P. CHARACHE. 1965. Hereditary Angioneurotic Edema: Two Genetic Variants. Science 148: 957.
    • (1965) Science , vol.148 , pp. 957
    • Rosen, F.S.1    Pensky, J.2    Donaldson, V.3    Charache, P.4
  • 29
    • 0031712910 scopus 로고    scopus 로고
    • Molecular genetics of C1 inhibitor
    • Tosi, M. 1998. Molecular genetics of C1 inhibitor. Immunobiology 199: 358.
    • (1998) Immunobiology , vol.199 , pp. 358
    • Tosi, M.1
  • 30
    • 0025052261 scopus 로고
    • Dysfunctional C1 inhibitor Ta: Deletion of Lys-251 results in acquisition of an N-glycosylation site
    • PARAD, R. B., J. KRAMER, R. C. STRUNK, F. S. ROSEN, and A. E. DAVIS. 1990. Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. Proc. Natl. Acad. Sci. USA 87: 6786.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , pp. 6786
    • Parad, R.B.1    Kramer, J.2    Strunk, R.C.3    Rosen, F.S.4    Davis, A.E.5
  • 31
    • 0024380091 scopus 로고
    • Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon
    • ARIGA, T., T. IGARASHI, N. RAMESH, R. PARAD, M. CICARDI, and A. E. DAVIS. 1989. Type I C1 inhibitor deficiency with a small messenger RNA resulting from deletion of one exon. J. Clin. Invest. 83: 1888.
    • (1989) J. Clin. Invest , vol.83 , pp. 1888
    • Ariga, T.1    Igarashi, T.2    Ramesh, N.3    Parad, R.4    Cicardi, M.5    Davis, A.E.6
  • 32
    • 0026005738 scopus 로고
    • Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema
    • FRANGI, D., M. CICARDI, A. SICA, F. COLOTTA, A. AGOSTONI, and A. E. DAVIS. 1991. Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. J. Clin. Invest. 88: 755.
    • (1991) J. Clin. Invest , vol.88 , pp. 755
    • Frangi, D.1    Cicardi, M.2    Sica, A.3    Colotta, F.4    Agostoni, A.5    Davis, A.E.6
  • 33
    • 0026521486 scopus 로고
    • A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444→Leu)
    • FRANGI, D., K. S. AULAK, M. CICARDI, R. A. HARRISON, and A. E. DAVIS. 1992. A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444→Leu). FEBS Lett. 301: 34.
    • (1992) FEBS Lett , vol.301 , pp. 34
    • Frangi, D.1    Aulak, K.S.2    Cicardi, M.3    Harrison, R.A.4    Davis, A.E.5
  • 35
    • 0023099697 scopus 로고
    • Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema
    • CICARDI, M., T. IGARASHI, F. S. ROSEN, and A. E. DAVIS. 1987. Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema. J. Clin. Invest. 79: 698.
    • (1987) J. Clin. Invest , vol.79 , pp. 698
    • Cicardi, M.1    Igarashi, T.2    Rosen, F.S.3    Davis, A.E.4
  • 37
    • 0027404944 scopus 로고
    • Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema
    • KRAMER, J., F. S. ROSEN, H. R. COLTEN, K. RAJCZY, and R. C. STRUNK. 1993. Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. J. Clin. Invest. 91: 1258.
    • (1993) J. Clin. Invest , vol.91 , pp. 1258
    • Kramer, J.1    Rosen, F.S.2    Colten, H.R.3    Rajczy, K.4    Strunk, R.C.5
  • 38
    • 0028804702 scopus 로고
    • Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function
    • VERPY, E., COUTURE-TOSI, E., E. ELDERING, LOPEZ-TRASCASA, M., P. SPATH, T. MEO, and M. TOSI. 1995. Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. J. Clin. Invest. 95: 350.
    • (1995) J. Clin. Invest , vol.95 , pp. 350
    • Verpy, E.1    Couture-Tosi, E.2    Eldering, E.3    Lopez-Trascasa, M.4    Spath, P.5    Meo, T.6    Tosi, M.7
  • 39
    • 0022973694 scopus 로고
    • An IgG autoantibody which inactivates C1-inhibitor
    • JACKSON, J., R. B. SIM, A. WHELAN, and C. FEIGHERY. 1986. An IgG autoantibody which inactivates C1-inhibitor. Nature 323: 722.
    • (1986) Nature , vol.323 , pp. 722
    • Jackson, J.1    Sim, R.B.2    Whelan, A.3    Feighery, C.4
  • 41
    • 0024319101 scopus 로고
    • Acquired C1 inhibitor (C1-INH) deficiency type II. Replacement therapy with C1-INH and analysis of patients' C1-INH and anti-C1 INH autoantibodies
    • ALSENZ, J., J. D. LAMBRIS, K. BORK, and M. LOOS. 1989. Acquired C1 inhibitor (C1-INH) deficiency type II. Replacement therapy with C1-INH and analysis of patients' C1-INH and anti-C1 INH autoantibodies. J. Clin. Invest. 83: 1794.
    • (1989) J. Clin. Invest , vol.83 , pp. 1794
    • Alsenz, J.1    Lambris, J.D.2    Bork, K.3    Loos, M.4
  • 44
    • 0029851034 scopus 로고    scopus 로고
    • Relevance of lymphoproliferative disorders and of anti-C1 inhibitor autoantibodies in acquired angio-oedema
    • CICARDI, M., A. BERETTA, M. COLOMBO, D. GIOFFRE, M. CUGNO, and A. AGOSTONI. 1996. Relevance of lymphoproliferative disorders and of anti-C1 inhibitor autoantibodies in acquired angio-oedema. Clin. Exp. Immunol. 106: 475.
    • (1996) Clin. Exp. Immunol , vol.106 , pp. 475
    • Cicardi, M.1    Beretta, A.2    Colombo, M.3    Gioffre, D.4    Cugno, M.5    Agostoni, A.6
  • 45
    • 0023177623 scopus 로고
    • Autoantibody-mediated acquired deficiency of C1 inhibitor
    • ALSENZ, J., K. BORK, and M. LOOS. 1987. Autoantibody-mediated acquired deficiency of C1 inhibitor. N. Engl. J. Med. 316: 1360.
    • (1987) N. Engl. J. Med , vol.316 , pp. 1360
    • Alsenz, J.1    Bork, K.2    Loos, M.3
  • 46
    • 0024589996 scopus 로고
    • Autoantibody facilitated cleavage of C1-inhibitor in autoimmune angioedema
    • JACKSON, J., R. B. SIM, K. WHALEY, and C. FEIGHERY. 1989. Autoantibody facilitated cleavage of C1-inhibitor in autoimmune angioedema. J. Clin. Invest. 83: 698.
    • (1989) J. Clin. Invest , vol.83 , pp. 698
    • Jackson, J.1    Sim, R.B.2    Whaley, K.3    Feighery, C.4
  • 47
    • 0028350823 scopus 로고
    • Acquired C1 inhibitor deficiency as a result of an autoantibody to the reactive center region of C1 inhibitor
    • MANDLE, R., C. BARON, E. Roux, R. SUNDEL, J. GELFAND, K. AULAK, A. E. DAVIS, F. S. ROSEN, and D. H. BING. 1994. Acquired C1 inhibitor deficiency as a result of an autoantibody to the reactive center region of C1 inhibitor. J. Immunol. 152: 4680.
    • (1994) J. Immunol , vol.152 , pp. 4680
    • Mandle, R.1    Baron, C.2    Roux, E.3    Sundel, R.4    Gelfand, J.5    Aulak, K.6    Davis, A.E.7    Rosen, F.S.8    Bing, D.H.9
  • 48
    • 0030063190 scopus 로고    scopus 로고
    • Epitope mapping of C1 inhibitor autoantibodies from patients with acquired C1 inhibitor deficiency
    • HE, S., S. TSANG, J. NORTH, N. CHOHAN, R. B. SIM, and K. WHALEY. 1996. Epitope mapping of C1 inhibitor autoantibodies from patients with acquired C1 inhibitor deficiency. J. Immunol. 156: 2009.
    • (1996) J. Immunol , vol.156 , pp. 2009
    • He, S.1    Tsang, S.2    North, J.3    Chohan, N.4    Sim, R.B.5    Whaley, K.6
  • 51
    • 0034056242 scopus 로고    scopus 로고
    • C1-Esterase inhibitor: An anti-inflammatory agent and its potential use in the treatment of diseases other than hereditary angioedema
    • CALIEZI, C., W A. WUILLEMIN, S. ZEERLEDER, M. REDONDO, B. EISELE, and C. E. HACK. 2000. C1-Esterase inhibitor: an anti-inflammatory agent and its potential use in the treatment of diseases other than hereditary angioedema. Pharmacol. Rev. 52: 91.
    • (2000) Pharmacol. Rev , vol.52 , pp. 91
    • Caliezi, C.1    Wuillemin, W.A.2    Zeerleder, S.3    Redondo, M.4    Eisele, B.5    Hack, C.E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.