메뉴 건너뛰기




Volumn 120, Issue 10, 2010, Pages 3702-3712

Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation

Author keywords

[No Author keywords available]

Indexed keywords

CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; DECAY ACCELERATING FACTOR; MEMBRANE COFACTOR PROTEIN;

EID: 77957827919     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI43343     Document Type: Article
Times cited : (184)

References (39)
  • 1
    • 58149349888 scopus 로고    scopus 로고
    • Interaction between the coagulation and complement system
    • Amara U, et al. Interaction between the coagulation and complement system. Adv Exp Med Biol. 2008;632:71-79.
    • (2008) Adv Exp Med Biol , vol.632 , pp. 71-79
    • Amara, U.1
  • 2
    • 77953266787 scopus 로고    scopus 로고
    • The amplification loop of the complement pathways
    • Lachmann PJ. The amplification loop of the complement pathways. Adv Immunol. 2009;104:115-149.
    • (2009) Adv Immunol , vol.104 , pp. 115-149
    • Lachmann, P.J.1
  • 3
    • 0035849176 scopus 로고    scopus 로고
    • Complement- Second of two parts
    • Walport MJ. Complement- second of two parts. N Engl J Med. 2001;344(15):1140-1144.
    • (2001) N Engl J Med , vol.344 , Issue.15 , pp. 1140-1144
    • Walport, M.J.1
  • 4
    • 0035810399 scopus 로고    scopus 로고
    • Complement- First of two parts
    • Walport MJ. Complement- first of two parts. N Engl J Med. 2001;344(14):1058-1066.
    • (2001) N Engl J Med , vol.344 , Issue.14 , pp. 1058-1066
    • Walport, M.J.1
  • 5
    • 34548491156 scopus 로고    scopus 로고
    • New approaches to the treatment of dense deposit disease
    • Smith RJH, et al. New approaches to the treatment of dense deposit disease. J Am Soc Nephrol. 2007;18(9):2447-2456.
    • (2007) J Am Soc Nephrol , vol.18 , Issue.9 , pp. 2447-2456
    • Smith, R.J.H.1
  • 6
    • 34247231531 scopus 로고    scopus 로고
    • Dense deposit disease: New insights
    • Walker PD. Dense deposit disease: new insights. Curr Opin Nephrol Hypertens. 2007;16(3):204-212.
    • (2007) Curr Opin Nephrol Hypertens , vol.16 , Issue.3 , pp. 204-212
    • Walker, P.D.1
  • 7
    • 0030823285 scopus 로고    scopus 로고
    • Human factor H deficiency
    • Ault BH, et al. Human factor H deficiency. J Biol Chem. 1997;272(40):25168-25175.
    • (1997) J Biol Chem , vol.272 , Issue.40 , pp. 25168-25175
    • Ault, B.H.1
  • 8
    • 1542318912 scopus 로고    scopus 로고
    • Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: Report and genetic analysis of 16 cases
    • Dragon-Durey MA, et al. Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol. 2004;15(3):787-795.
    • (2004) J Am Soc Nephrol , vol.15 , Issue.3 , pp. 787-795
    • Dragon-Durey, M.A.1
  • 9
    • 22544431912 scopus 로고    scopus 로고
    • Complement and diseases: Defective alternative pathway control results in kidney and eye diseases
    • Zipfel PF, Heinen S, Józsi M, Skerka C. Complement and diseases: Defective alternative pathway control results in kidney and eye diseases. Mol Immunol. 2006;43(1-2):97-106.
    • (2006) Mol Immunol , vol.43 , Issue.1-2 , pp. 97-106
    • Zipfel, P.F.1    Heinen, S.2    Józsi, M.3    Skerka, C.4
  • 10
    • 33745697887 scopus 로고    scopus 로고
    • Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)
    • Licht C, et al. Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int. 2006;70(1):42-50.
    • (2006) Kidney Int , vol.70 , Issue.1 , pp. 42-50
    • Licht, C.1
  • 11
    • 0028952777 scopus 로고
    • Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency
    • HøgÅsen K, Jansen JH, Mollnes TE, Hovdenes J, Harboe M. Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency. J Clin Invest. 1995;95(3):1054-1061.
    • (1995) J Clin Invest , vol.95 , Issue.3 , pp. 1054-1061
    • HøgÅsen, K.1    Jansen, J.H.2    Mollnes, T.E.3    Hovdenes, J.4    Harboe, M.5
  • 12
    • 0036699540 scopus 로고    scopus 로고
    • Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H
    • Pickering MC, et al. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat Genet. 2002;31(4):424-428.
    • (2002) Nat Genet , vol.31 , Issue.4 , pp. 424-428
    • Pickering, M.C.1
  • 13
    • 38849102544 scopus 로고    scopus 로고
    • Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice
    • Rose KL. Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice. J Clin Invest. 2008;118(2):608-618.
    • (2008) J Clin Invest , vol.118 , Issue.2 , pp. 608-618
    • Rose, K.L.1
  • 14
    • 33745441327 scopus 로고    scopus 로고
    • Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice
    • Pickering MC, et al. Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice. Proc Natl Acad Sci U S A. 2006;103(25):9649-9654.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.25 , pp. 9649-9654
    • Pickering, M.C.1
  • 15
    • 13244291613 scopus 로고    scopus 로고
    • Molecular dissection of interactions between components of the alternative pathway of complement and decay accelerating factor (CD55)
    • Harris CL, Abbott RJM, Smith RA, Morgan BP, Lea SM. Molecular dissection of interactions between components of the alternative pathway of complement and decay accelerating factor (CD55). J Biol Chem. 2005;280(4):2569-2578.
    • (2005) J Biol Chem , vol.280 , Issue.4 , pp. 2569-2578
    • Harris, C.L.1    Abbott, R.J.M.2    Smith, R.A.3    Morgan, B.P.4    Lea, S.M.5
  • 16
    • 25644452794 scopus 로고    scopus 로고
    • Structures of complement component C3 provide insights into the function and evolution of immunity
    • Janssen BJC, et al. Structures of complement component C3 provide insights into the function and evolution of immunity. Nature. 2005;437(7058):505-511.
    • (2005) Nature , vol.437 , Issue.7058 , pp. 505-511
    • Janssen, B.J.C.1
  • 17
    • 37549023083 scopus 로고    scopus 로고
    • Complement driven by conformational changes
    • Gros P, Milder FJ, Janssen BJC. Complement driven by conformational changes. Nat Rev Immunol. 2008;8(1):48-58.
    • (2008) Nat Rev Immunol , vol.8 , Issue.1 , pp. 48-58
    • Gros, P.1    Milder, F.J.2    Janssen, B.J.C.3
  • 18
    • 58849109079 scopus 로고    scopus 로고
    • 3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase
    • Torreira E, Tortajada A, Montes T, Rodríguez de Córdoba S, Llorca O. 3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase. Proc Natl Acad Sci U S A. 2009;106(3):882-887.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , Issue.3 , pp. 882-887
    • Torreira, E.1    Tortajada, A.2    Montes, T.3    Rodríguez De Córdoba, S.4    Llorca, O.5
  • 19
    • 73349135351 scopus 로고    scopus 로고
    • Coexistence of closed and open conformations of complement factor b in the alternative pathway C3bB(Mg2+) proconvertase
    • Torreira E, Tortajada A, Montes T, Rodriguez de Cordoba S, Llorca O. Coexistence of closed and open conformations of complement factor b in the alternative pathway C3bB(Mg2+) proconvertase. J Immunol. 2009;183(11):7347-7351.
    • (2009) J Immunol , vol.183 , Issue.11 , pp. 7347-7351
    • Torreira, E.1    Tortajada, A.2    Montes, T.3    Rodriguez De Cordoba, S.4    Llorca, O.5
  • 20
    • 67649230210 scopus 로고    scopus 로고
    • Structure of complement fragment C3b-factor H and implications for host protection by complement regulators
    • Wu J, Wu YQ, Ricklin D, Janssen BJC, Lambris JD, Gros P. Structure of complement fragment C3b-factor H and implications for host protection by complement regulators. Nat Immunol. 2009;10(7):728-733.
    • (2009) Nat Immunol , vol.10 , Issue.7 , pp. 728-733
    • Wu, J.1    Wu, Y.Q.2    Ricklin, D.3    Janssen, B.J.C.4    Lambris, J.D.5    Gros, P.6
  • 22
    • 0028875543 scopus 로고
    • Mapping of the complement regulatory domains in the human factor H-like protein 1 and in factor H1
    • Kuhn S, Skerka C, Zipfel PF. Mapping of the complement regulatory domains in the human factor H-like protein 1 and in factor H1. J Immunol. 1995;155(12):5663-5670.
    • (1995) J Immunol , vol.155 , Issue.12 , pp. 5663-5670
    • Kuhn, S.1    Skerka, C.2    Zipfel, P.F.3
  • 23
    • 33751214235 scopus 로고    scopus 로고
    • Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome
    • DOI 10.1016/j.molimm.2006.08.024, PII S016158900600575X
    • Liszewski MK, Leung MK, Schraml B, Goodship THJ, Atkinson JP. Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome. Mol Immunol. 2007;44(7):1559-1568. (Pubitemid 44792750)
    • (2007) Molecular Immunology , vol.44 , Issue.7 , pp. 1570-1579
    • Liszewski, M.K.1    Leung, M.K.2    Schraml, B.3    Goodship, T.H.J.4    Atkinson, J.P.5
  • 24
    • 33751035523 scopus 로고    scopus 로고
    • Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome
    • Richards A, et al. Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Mol Immunol. 2007;44(1-3):111-122.
    • (2007) Mol Immunol , vol.44 , Issue.1-3 , pp. 111-122
    • Richards, A.1
  • 25
    • 67649221223 scopus 로고    scopus 로고
    • Structural and functional implications of the alternative complement pathway C3 convertase stabilized by a staphylococcal inhibitor
    • Rooijakkers SHM, et al. Structural and functional implications of the alternative complement pathway C3 convertase stabilized by a staphylococcal inhibitor. Nat Immunol. 2009;10(7):721-727.
    • (2009) Nat Immunol , vol.10 , Issue.7 , pp. 721-727
    • Rooijakkers, S.H.M.1
  • 26
    • 35748951604 scopus 로고    scopus 로고
    • Structure of compstatin in complex with complement component C3c reveals a new mechanism of complement inhibition
    • Janssen BJC, Halff EF, Lambris JD, Gros P. Structure of compstatin in complex with complement component C3c reveals a new mechanism of complement inhibition. J Biol Chem. 2007;282(40):29241-29247.
    • (2007) J Biol Chem , vol.282 , Issue.40 , pp. 29241-29247
    • Janssen, B.J.C.1    Halff, E.F.2    Lambris, J.D.3    Gros, P.4
  • 27
    • 33750873601 scopus 로고    scopus 로고
    • Structure of C3b in complex with CRIg gives insights into regulation of complement activation
    • Wiesmann C, et al. Structure of C3b in complex with CRIg gives insights into regulation of complement activation. Nature. 2006;444(7116):217-220.
    • (2006) Nature , vol.444 , Issue.7116 , pp. 217-220
    • Wiesmann, C.1
  • 28
    • 67449093446 scopus 로고    scopus 로고
    • Structural and functional analysis of a C3b-specific antibody that selectively inhibits the alternative pathway of complement
    • Katschke KJ, et al. Structural and functional analysis of a C3b-specific antibody that selectively inhibits the alternative pathway of complement. J Biol Chem. 2009;284(16):10473-10479.
    • (2009) J Biol Chem , vol.284 , Issue.16 , pp. 10473-10479
    • Katschke, K.J.1
  • 29
    • 40149093101 scopus 로고    scopus 로고
    • The tick-over theory revisited: Formation and regulation of the soluble alternative complement C3 convertase (C3(H2O)Bb)
    • Bexborn F, Andersson PO, Chen H, Nilsson B, Ekdahl KN. The tick-over theory revisited: Formation and regulation of the soluble alternative complement C3 convertase (C3(H2O)Bb). Mol Immunol. 2008;45(8):2370-2379.
    • (2008) Mol Immunol , vol.45 , Issue.8 , pp. 2370-2379
    • Bexborn, F.1    Andersson, P.O.2    Chen, H.3    Nilsson, B.4    Ekdahl, K.N.5
  • 30
    • 36849084660 scopus 로고    scopus 로고
    • Translational Mini-Review Series on Complement Factor H: Genetics and disease associations of human complement factor H
    • DOI 10.1111/j.1365-2249.2007.03552.x
    • Rodriguez de Cordoba S, Goicoechea de Jorge E. Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H. Clin Exp Immunol. 2008;151(1):1-13. (Pubitemid 350230999)
    • (2008) Clinical and Experimental Immunology , vol.151 , Issue.1 , pp. 1-13
    • De Cordoba, S.R.1    De Jorge, E.G.2
  • 31
    • 33846094404 scopus 로고    scopus 로고
    • Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
    • Goicoechea de Jorge E, et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2007;104(1):240-245.
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.1 , pp. 240-245
    • Goicoechea De Jorge, E.1
  • 33
    • 44649151935 scopus 로고    scopus 로고
    • Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: Application to assessing risk of age-related macular degeneration
    • Hakobyan S, et al. Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: application to assessing risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2008;49(5):1983-1990.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , Issue.5 , pp. 1983-1990
    • Hakobyan, S.1
  • 34
    • 76949087440 scopus 로고    scopus 로고
    • Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome
    • Abarrategui-Garrido C, Martinez-Barricarte R, Lopez-Trascasa M, Rodriguez de Cordoba S, Sanchez-Corral P. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood. 2009;114(19):4261-4271.
    • (2009) Blood , vol.114 , Issue.19 , pp. 4261-4271
    • Abarrategui-Garrido, C.1    Martinez-Barricarte, R.2    Lopez-Trascasa, M.3    Rodriguez De Cordoba, S.4    Sanchez-Corral, P.5
  • 35
    • 0020081641 scopus 로고
    • A new screening test for C3 nephritis factor based on a stable cell bound convertase on sheep erythrocytes
    • DOI 10.1016/0022-1759(82)90386-6
    • Rother U. A new screening test for C3 nephritis factor based on a stable cell bound convertase on sheep erythrocytes. J Immunol Methods. 1982;51(1):101-107. (Pubitemid 12125433)
    • (1982) Journal of Immunological Methods , vol.51 , Issue.1 , pp. 101-107
    • Rother, U.1
  • 36
    • 0018426978 scopus 로고
    • The alternative pathway C3/C5 convertase: Chemical basis of factor B activation
    • Lesavre PH, Hugli TE, Esser AF, Müller-Eberhard HJ. The alternative pathway C3/C5 convertase: chemical basis of factor B activation. J Immunol. 1979;123(2):529-534. (Pubitemid 9203384)
    • (1979) Journal of Immunology , vol.123 , Issue.2 , pp. 529-534
    • Lesavre, P.H.1    Hugli, T.E.2    Esser, A.F.3    Muller-Eberhard, H.J.4
  • 37
    • 19444369542 scopus 로고    scopus 로고
    • Complement factor I: A susceptibility gene for atypical haemolytic uraemic syndrome
    • Fremeaux-Bacchi V, et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004;41(6):e84.
    • (2004) J Med Genet , vol.41 , Issue.6
    • Fremeaux-Bacchi, V.1
  • 39
    • 0242331610 scopus 로고    scopus 로고
    • Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
    • Richards A, et al. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2003;100(22):12966-12971.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , Issue.22 , pp. 12966-12971
    • Richards, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.