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Volumn 5, Issue 2, 2007, Pages 321-328

Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13

Author keywords

ADAMTS 13; Mutations; Von Willebrand disease; Von Willebrand factor

Indexed keywords

ARGININE; GLUTAMIC ACID; GLYCINE; HISTIDINE; ISOLEUCINE; LYSINE; METHIONINE; PHENYLALANINE; PROLINE; RECOMBINANT PROTEIN; SERINE; SODIUM CHLORIDE; THREONINE; TRYPTOPHAN; VALINE; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

EID: 33846445722     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02296.x     Document Type: Article
Times cited : (47)

References (47)
  • 1
    • 0037369110 scopus 로고    scopus 로고
    • Von Willebrand factor
    • Ruggeri ZM. Von Willebrand factor. Curr Opin Hematol 2003; 10: 142-9.
    • (2003) Curr Opin Hematol , vol.10 , pp. 142-149
    • Ruggeri, Z.M.1
  • 4
    • 0035798582 scopus 로고    scopus 로고
    • Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura
    • Zheng XL, Chung D, Takayama TK, Majerus EM, Sadler JE, Fujikawa K. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-63.
    • (2001) J Biol Chem , vol.276 , pp. 41059-41063
    • Zheng, X.L.1    Chung, D.2    Takayama, T.K.3    Majerus, E.M.4    Sadler, J.E.5    Fujikawa, K.6
  • 5
    • 0022517442 scopus 로고
    • Subunit composition of plasma von Willebrand Factor. Cleavage is present in normal individuals, increased in type IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE)
    • Zimmerman TS, Dent JA, Ruggeri ZM, Nannini LH. Subunit composition of plasma von Willebrand Factor. Cleavage is present in normal individuals, increased in type IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE). J Clin Invest 1986; 77: 947-51.
    • (1986) J Clin Invest , vol.77 , pp. 947-951
    • Zimmerman, T.S.1    Dent, J.A.2    Ruggeri, Z.M.3    Nannini, L.H.4
  • 6
    • 0025044664 scopus 로고
    • Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor
    • Dent JA, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA 1990; 87: 6306-10.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6306-6310
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3    Kasper, C.K.4    Ruggeri, Z.M.5
  • 7
    • 0026069774 scopus 로고
    • Heterogeneity of plasma von Willebrand-Factor multimers resulting from proteolysis of the constituent subunit
    • Dent JA, Galbusera M, Ruggeri ZM. Heterogeneity of plasma von Willebrand-Factor multimers resulting from proteolysis of the constituent subunit. J Clin Invest 1991; 88: 774-82.
    • (1991) J Clin Invest , vol.88 , pp. 774-782
    • Dent, J.A.1    Galbusera, M.2    Ruggeri, Z.M.3
  • 8
    • 0347986767 scopus 로고    scopus 로고
    • Von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura
    • Moake JL. Von Willebrand factor, ADAMTS-13, and thrombotic thrombocytopenic purpura. Semin Hematol 2004; 41: 4-14.
    • (2004) Semin Hematol , vol.41 , pp. 4-14
    • Moake, J.L.1
  • 9
    • 0028201807 scopus 로고
    • A revised classification of von Willebrand disease
    • Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
    • (1994) Thromb Haemost , vol.71 , pp. 520-525
    • Sadler, J.E.1
  • 10
    • 12344262502 scopus 로고    scopus 로고
    • Phenotypic and genotypic diagnosis of von Willebrand disease: A 2004 update
    • Schneppenheim R, Budde U. Phenotypic and genotypic diagnosis of von Willebrand disease: A 2004 update. Semin Hematol 2005; 42: 15-28.
    • (2005) Semin Hematol , vol.42 , pp. 15-28
    • Schneppenheim, R.1    Budde, U.2
  • 11
    • 0026630044 scopus 로고
    • Impaired intracellular transport produced by a subset of type-IIA von Willebrand disease mutations
    • Lyons SE, Bruck ME, Bowie EJW, Ginsburg D. Impaired intracellular transport produced by a subset of type-IIA von Willebrand disease mutations. J Biol Chem 1992; 267: 4424-30.
    • (1992) J Biol Chem , vol.267 , pp. 4424-4430
    • Lyons, S.E.1    Bruck, M.E.2    Bowie, E.J.W.3    Ginsburg, D.4
  • 12
    • 0030980679 scopus 로고    scopus 로고
    • Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1
    • Tsai HM, Sussman II, Ginsburg D, Lankhof H, Sixma JJ, Nagel RL. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1. Blood 1997; 89: 1954-62.
    • (1997) Blood , vol.89 , pp. 1954-1962
    • Tsai, H.M.1    Sussman, I.I.2    Ginsburg, D.3    Lankhof, H.4    Sixma, J.J.5    Nagel, R.L.6
  • 13
    • 28344438894 scopus 로고    scopus 로고
    • Willebrand factor: Two sides of a coin
    • Sadler JE. Willebrand factor: Two sides of a coin. J Thromb Haemost 2005; 3: 1702-9.
    • (2005) J Thromb Haemost , vol.3 , pp. 1702-1709
    • Sadler, J.E.1
  • 15
    • 0026457996 scopus 로고
    • Characterization of recombinant von Willebrand factor corresponding to mutations in Type-IIA and Type-IIB von Willebrand disease
    • Ribba AS, Voorberg J, Meyer D, Pannekoek H, Pietu G. Characterization of recombinant von Willebrand factor corresponding to mutations in Type-IIA and Type-IIB von Willebrand disease. J Biol Chem 1992; 267: 23209-15.
    • (1992) J Biol Chem , vol.267 , pp. 23209-23215
    • Ribba, A.S.1    Voorberg, J.2    Meyer, D.3    Pannekoek, H.4    Pietu, G.5
  • 17
    • 0031729034 scopus 로고    scopus 로고
    • Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu
    • Hilbert L, Gaucher C, Abgrall JF, Parquet A, Trzeciak C, Mazurier C. Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. Br J Haematol 1998; 103: 877-84.
    • (1998) Br J Haematol , vol.103 , pp. 877-884
    • Hilbert, L.1    Gaucher, C.2    Abgrall, J.F.3    Parquet, A.4    Trzeciak, C.5    Mazurier, C.6
  • 18
    • 0025732427 scopus 로고
    • Molecular basis of von Willebrand disease type-IIB -candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein-Ib binding sequences
    • Randi AM, Rabinowitz I, Mancuso DJ, Mannucci PM, Sadler JE. Molecular basis of von Willebrand disease type-IIB -candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein-Ib binding sequences. J Clin Invest 1991; 87: 1220-6.
    • (1991) J Clin Invest , vol.87 , pp. 1220-1226
    • Randi, A.M.1    Rabinowitz, I.2    Mancuso, D.J.3    Mannucci, P.M.4    Sadler, J.E.5
  • 19
    • 0036219685 scopus 로고    scopus 로고
    • Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor
    • Hilbert L, Fressinaud E, Ribba AS, Meyer D, Mazurier C. Identification of a new type 2M von Willebrand disease mutation also at position 1324 of von Willebrand factor. Thromb Haemost 2002; 87: 635-40.
    • (2002) Thromb Haemost , vol.87 , pp. 635-640
    • Hilbert, L.1    Fressinaud, E.2    Ribba, A.S.3    Meyer, D.4    Mazurier, C.5
  • 20
    • 0034660336 scopus 로고    scopus 로고
    • Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation
    • Ajzenberg N, Ribba AS, RastegarLari G, Meyer D, Baruch D. Effect of recombinant von Willebrand factor reproducing type 2B or type 2M mutations on shear-induced platelet aggregation. Blood 2000; 95: 3796-803.
    • (2000) Blood , vol.95 , pp. 3796-3803
    • Ajzenberg, N.1    Ribba, A.S.2    RastegarLari, G.3    Meyer, D.4    Baruch, D.5
  • 21
    • 33644872573 scopus 로고    scopus 로고
    • Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion
    • Hommais A, Stepanian A, Fressinaud E, Mazurier C, Meyer D, Girma JP, Ribba AS. Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion. J Thromb Haemost 2006; 4: 148-57.
    • (2006) J Thromb Haemost , vol.4 , pp. 148-157
    • Hommais, A.1    Stepanian, A.2    Fressinaud, E.3    Mazurier, C.4    Meyer, D.5    Girma, J.P.6    Ribba, A.S.7
  • 22
    • 0029101406 scopus 로고
    • Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF
    • Hilbert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 1995; 86: 1010-8.
    • (1995) Blood , vol.86 , pp. 1010-1018
    • Hilbert, L.1    Gaucher, C.2    Mazurier, C.3
  • 24
    • 0033559304 scopus 로고    scopus 로고
    • Conformational changes in the A3 domain of von Willebrand factor modulate the interaction of the A1 domain with platelet glycoprotein Ib
    • Obert B, Houllier A, Meyer D, Girma JP. Conformational changes in the A3 domain of von Willebrand factor modulate the interaction of the A1 domain with platelet glycoprotein Ib. Blood 1999; 93: 1959-68.
    • (1999) Blood , vol.93 , pp. 1959-1968
    • Obert, B.1    Houllier, A.2    Meyer, D.3    Girma, J.P.4
  • 25
    • 0032728603 scopus 로고    scopus 로고
    • Estimation of the von Willebrand factor-cleaving protease in plasma using monoclonal antibodies to vWF
    • Obert B, Tout H, Veyradier A, Fressinaud E, Meyer D, Girma JP. Estimation of the von Willebrand factor-cleaving protease in plasma using monoclonal antibodies to vWF. Thromb Haemost 1999; 82: 1382-5.
    • (1999) Thromb Haemost , vol.82 , pp. 1382-1385
    • Obert, B.1    Tout, H.2    Veyradier, A.3    Fressinaud, E.4    Meyer, D.5    Girma, J.P.6
  • 26
    • 0028174949 scopus 로고
    • Leu 697 -> Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease
    • Hilbert L, Gaucher C, De Romeuf C, Horellou MH, Vink T, Mazurier C. Leu 697 -> Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. Blood 1994; 83: 1542-50.
    • (1994) Blood , vol.83 , pp. 1542-1550
    • Hilbert, L.1    Gaucher, C.2    De Romeuf, C.3    Horellou, M.H.4    Vink, T.5    Mazurier, C.6
  • 27
    • 0942276833 scopus 로고    scopus 로고
    • VWF73, a region from D1596 to R1668 of von Willebrand factor, provides a minimal substrate for ADAMTS-13
    • Kokame K, Matsumoto M, Fujimura Y, Miyata T. VWF73, a region from D1596 to R1668 of von Willebrand factor, provides a minimal substrate for ADAMTS-13. Blood 2004; 103: 607-12.
    • (2004) Blood , vol.103 , pp. 607-612
    • Kokame, K.1    Matsumoto, M.2    Fujimura, Y.3    Miyata, T.4
  • 28
    • 0042530524 scopus 로고    scopus 로고
    • Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13
    • Zheng X, Nishio K, Majerus EM, Sadler JE. Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13. J Biol Chem 2003; 278: 30136-41.
    • (2003) J Biol Chem , vol.278 , pp. 30136-30141
    • Zheng, X.1    Nishio, K.2    Majerus, E.M.3    Sadler, J.E.4
  • 29
    • 17144408687 scopus 로고    scopus 로고
    • FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay
    • Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay. Br J Haematol 2005; 129: 93-100.
    • (2005) Br J Haematol , vol.129 , pp. 93-100
    • Kokame, K.1    Nobe, Y.2    Kokubo, Y.3    Okayama, A.4    Miyata, T.5
  • 30
    • 0035885972 scopus 로고    scopus 로고
    • Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family
    • Fujikawa K, Suzuki H, McMullen B, Chung D. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood 2001; 98: 1662-6.
    • (2001) Blood , vol.98 , pp. 1662-1666
    • Fujikawa, K.1    Suzuki, H.2    McMullen, B.3    Chung, D.4
  • 31
    • 1842469787 scopus 로고    scopus 로고
    • Recombinant vWF type 2A mutants R834Q and R834W show a defect in mediating platelet adhesion to collagen, independent of enhanced sensitivity to a plasma protease
    • Lankhof H, Damas C, Schiphorst ME, Ijsseldijk MJW, Bracke M, Furlan M, deGroot PG, Sixma JJ, Vink T. Recombinant vWF type 2A mutants R834Q and R834W show a defect in mediating platelet adhesion to collagen, independent of enhanced sensitivity to a plasma protease. Thromb Haemost 1999; 81: 976-83.
    • (1999) Thromb Haemost , vol.81 , pp. 976-983
    • Lankhof, H.1    Damas, C.2    Schiphorst, M.E.3    Ijsseldijk, M.J.W.4    Bracke, M.5    Furlan, M.6    deGroot, P.G.7    Sixma, J.J.8    Vink, T.9
  • 32
    • 0035885962 scopus 로고    scopus 로고
    • Partial amino acid sequence of purified von Willebrand factor-cleaving protease
    • Gerritsen HE, Robles R, Lammle B, Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood 2001; 98: 1654-61.
    • (2001) Blood , vol.98 , pp. 1654-1661
    • Gerritsen, H.E.1    Robles, R.2    Lammle, B.3    Furlan, M.4
  • 34
    • 33644867871 scopus 로고    scopus 로고
    • Zinc and calcium ions cooperatively modulate ADAMTS13 activity
    • Anderson PJ, Kokame K, Sadler JE. Zinc and calcium ions cooperatively modulate ADAMTS13 activity. J Biol Chem 2006; 281: 850-7.
    • (2006) J Biol Chem , vol.281 , pp. 850-857
    • Anderson, P.J.1    Kokame, K.2    Sadler, J.E.3
  • 38
    • 4544232865 scopus 로고    scopus 로고
    • Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations
    • Sutherland JJ, O'Brien LA, Lillicrap D, Weaver DF. Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. J Mol Model 2004; 10: 259-70.
    • (2004) J Mol Model , vol.10 , pp. 259-270
    • Sutherland, J.J.1    O'Brien, L.A.2    Lillicrap, D.3    Weaver, D.F.4
  • 40
    • 22044436752 scopus 로고    scopus 로고
    • ADAMTS-13 binds VWF via its C-terminal CUB2 domain
    • Zhang W, Motto D, Ginsburg D. ADAMTS-13 binds VWF via its C-terminal CUB2 domain. Blood 2004; 104: 39a.
    • (2004) Blood , vol.104
    • Zhang, W.1    Motto, D.2    Ginsburg, D.3
  • 41
    • 28844490990 scopus 로고    scopus 로고
    • Role of the CUB-1 domain in docking ADAMTS-13 to unusually large Von Willebrand factor in flowing blood
    • Tao Z, Peng Y, Nolasco L, Cal S, Lopez-Otin C, Li R, Moake JL, Lopez JA, Dong JF. Role of the CUB-1 domain in docking ADAMTS-13 to unusually large Von Willebrand factor in flowing blood. Blood 2005; 106: 4139-45.
    • (2005) Blood , vol.106 , pp. 4139-4145
    • Tao, Z.1    Peng, Y.2    Nolasco, L.3    Cal, S.4    Lopez-Otin, C.5    Li, R.6    Moake, J.L.7    Lopez, J.A.8    Dong, J.F.9
  • 42
    • 20444454641 scopus 로고    scopus 로고
    • Binding of ADAMTS13 to von Willebrand factor
    • Majerus EM, Anderson PJ, Sadler JE. Binding of ADAMTS13 to von Willebrand factor. J Biol Chem 2005; 280: 21773-8.
    • (2005) J Biol Chem , vol.280 , pp. 21773-21778
    • Majerus, E.M.1    Anderson, P.J.2    Sadler, J.E.3
  • 43
    • 28344435221 scopus 로고    scopus 로고
    • Cleavage of ultra-large von Willebrand factor by ADAMTS-13 under flow conditions
    • Dong JF. Cleavage of ultra-large von Willebrand factor by ADAMTS-13 under flow conditions. J Thromb Haemost 2005; 3: 1710-6.
    • (2005) J Thromb Haemost , vol.3 , pp. 1710-1716
    • Dong, J.F.1
  • 45
    • 33646541681 scopus 로고    scopus 로고
    • P-selectin binds to the D'-D3 domains of von Willebrand factor in Weibel-Palade bodies
    • Michaux G, Pullen TJ, Haberichter SL, Cutler DF. P-selectin binds to the D'-D3 domains of von Willebrand factor in Weibel-Palade bodies. Blood 2006; 107: 3922-4.
    • (2006) Blood , vol.107 , pp. 3922-3924
    • Michaux, G.1    Pullen, T.J.2    Haberichter, S.L.3    Cutler, D.F.4
  • 47
    • 3242676770 scopus 로고    scopus 로고
    • Binding of platelet glycoprotein Ibalpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13
    • Nishio K, Anderson PJ, Zheng XL, Sadler JE. Binding of platelet glycoprotein Ibalpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13. Proc Natl Acad Sci USA 2004; 101: 10578-83.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 10578-10583
    • Nishio, K.1    Anderson, P.J.2    Zheng, X.L.3    Sadler, J.E.4


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