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Volumn 98, Issue 3, 2007, Pages 593-599

Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)

Author keywords

ADAMTS13; Mutations; Recombinant proteins; Thrombotic thrombocytopenic purpura (TTP)

Indexed keywords

PROTEINASE; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

EID: 34548679153     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-01-0059     Document Type: Article
Times cited : (33)

References (35)
  • 1
    • 28344438894 scopus 로고    scopus 로고
    • Sadler JE. von Willebrand factor: two sides of a coin. J Thromb Haemost 2005; 3: 1702-1709.
    • Sadler JE. von Willebrand factor: two sides of a coin. J Thromb Haemost 2005; 3: 1702-1709.
  • 2
    • 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, et al. 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: 6306-6310.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 6306-6310
    • Dent, J.A.1    Berkowitz, S.D.2    Ware, J.3
  • 3
    • 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: 1710-1716.
    • (2005) J Thromb Haemost , vol.3 , pp. 1710-1716
    • Dong, J.F.1
  • 4
    • 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, et al. 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: 947-951.
    • (1986) J Clin Invest , vol.77 , pp. 947-951
    • Zimmerman, T.S.1    Dent, J.A.2    Ruggeri, Z.M.3
  • 5
    • 0035885962 scopus 로고    scopus 로고
    • Partial amino acid sequence of purified von Willebrand factor-cleaving protease
    • Gerritsen HE, Robles R, Lammle B, et al. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood 2001; 98: 1654-1661.
    • (2001) Blood , vol.98 , pp. 1654-1661
    • Gerritsen, H.E.1    Robles, R.2    Lammle, B.3
  • 6
    • 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, et al. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood 2001; 98: 1662-1666.
    • (2001) Blood , vol.98 , pp. 1662-1666
    • Fujikawa, K.1    Suzuki, H.2    McMullen, B.3
  • 7
    • 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, et al. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. J Biol Chem 2001; 276: 41059-41063.
    • (2001) J Biol Chem , vol.276 , pp. 41059-41063
    • Zheng, X.L.1    Chung, D.2    Takayama, T.K.3
  • 8
    • 0029925856 scopus 로고    scopus 로고
    • Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis
    • Furlan M, Robles R, Lammle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996; 87: 4223-4234.
    • (1996) Blood , vol.87 , pp. 4223-4234
    • Furlan, M.1    Robles, R.2    Lammle, B.3
  • 9
    • 0042530524 scopus 로고    scopus 로고
    • Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13
    • Zheng X, Nishio K, Majerus EM, et al. Cleavage of von Willebrand factor requires the spacer domain of the metalloprotease ADAMTS13. J Biol Chem 2003; 278: 30136-30141.
    • (2003) J Biol Chem , vol.278 , pp. 30136-30141
    • Zheng, X.1    Nishio, K.2    Majerus, E.M.3
  • 10
    • 0142152440 scopus 로고    scopus 로고
    • ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage
    • Soejima K, Matsumoto M, Kokame K, et al. ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage. Blood 2003; 102: 3232-3237.
    • (2003) Blood , vol.102 , pp. 3232-3237
    • Soejima, K.1    Matsumoto, M.2    Kokame, K.3
  • 11
    • 0347986767 scopus 로고    scopus 로고
    • 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    Willebrand factor, V.2
  • 12
    • 0035807348 scopus 로고    scopus 로고
    • Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
    • Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-494.
    • (2001) Nature , vol.413 , pp. 488-494
    • Levy, G.G.1    Nichols, W.C.2    Lian, E.C.3
  • 13
    • 0037513434 scopus 로고    scopus 로고
    • Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency
    • Assink K, Schiphorst R, Allford S, et al. Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency. Kidney Int 2003; 63: 1995-1999.
    • (2003) Kidney Int , vol.63 , pp. 1995-1999
    • Assink, K.1    Schiphorst, R.2    Allford, S.3
  • 14
    • 0037015057 scopus 로고    scopus 로고
    • Mutations and common polymorphisms in ADAMTS13 gene responsiblefor von Willebrand factor-cleaving protease activity
    • Kokame K, Matsumoto M, Soejima K, et al. Mutations and common polymorphisms in ADAMTS13 gene responsiblefor von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA 2002; 99: 11902-11907.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 11902-11907
    • Kokame, K.1    Matsumoto, M.2    Soejima, K.3
  • 15
    • 0346095394 scopus 로고    scopus 로고
    • Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
    • Kokame K, Miyata T. Genetic defects leading to hereditary thrombotic thrombocytopenic purpura. Semin Hematol 2004; 41: 34-40.
    • (2004) Semin Hematol , vol.41 , pp. 34-40
    • Kokame, K.1    Miyata, T.2
  • 16
    • 10744226155 scopus 로고    scopus 로고
    • Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome
    • Matsumoto M, Kokame K, Soejima K, et al. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. Blood 2004; 103: 1305-1310.
    • (2004) Blood , vol.103 , pp. 1305-1310
    • Matsumoto, M.1    Kokame, K.2    Soejima, K.3
  • 17
    • 0942287728 scopus 로고    scopus 로고
    • Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
    • Pimanda JE, Maekawa A, Wind T, et al. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. Blood 2004; 103: 627-629.
    • (2004) Blood , vol.103 , pp. 627-629
    • Pimanda, J.E.1    Maekawa, A.2    Wind, T.3
  • 18
    • 4644271599 scopus 로고    scopus 로고
    • Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura
    • Uchida T, Wada H, Mizutani M, et al. Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. Blood 2004; 104: 2081-2083.
    • (2004) Blood , vol.104 , pp. 2081-2083
    • Uchida, T.1    Wada, H.2    Mizutani, M.3
  • 19
    • 6944240035 scopus 로고    scopus 로고
    • Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)
    • Veyradier A, Lavergne JM , Ribba AS, et al. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). J Thromb Haemost 2004; 2: 424-429.
    • (2004) J Thromb Haemost , vol.2 , pp. 424-429
    • Veyradier, A.1    Lavergne, J.M.2    Ribba, A.S.3
  • 21
    • 33749872079 scopus 로고    scopus 로고
    • In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura
    • Donadelli R, Banterla F, Galbusera M, et al. In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura. Thromb Haemost 2006; 96: 454-464.
    • (2006) Thromb Haemost , vol.96 , pp. 454-464
    • Donadelli, R.1    Banterla, F.2    Galbusera, M.3
  • 22
    • 33645774439 scopus 로고    scopus 로고
    • Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
    • Peyvandi F, Lavoretano S, Palla R, et al. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity. Hum Mutat 2006; 27: 330-336.
    • (2006) Hum Mutat , vol.27 , pp. 330-336
    • Peyvandi, F.1    Lavoretano, S.2    Palla, R.3
  • 24
    • 33747155004 scopus 로고    scopus 로고
    • Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura
    • Tao Z, Anthony K, Peng Y, et al. Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura. J Thromb Haemost 2006; 4: 1931-1935.
    • (2006) J Thromb Haemost , vol.4 , pp. 1931-1935
    • Tao, Z.1    Anthony, K.2    Peng, Y.3
  • 25
    • 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, et al. Conformational changes in the A3 domain of von Willebrand factor modulate the interaction of the A1 domain with platelet glycoprotein Ib. Blood 1999; 93: 1959-1968.
    • (1999) Blood , vol.93 , pp. 1959-1968
    • Obert, B.1    Houllier, A.2    Meyer, D.3
  • 26
    • 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, et al. VWF73, a region from D1596 to R1668 of von Willebrand factor, provides a minimal substrate for ADAMTS-13. Blood 2004; 103: 607-612.
    • (2004) Blood , vol.103 , pp. 607-612
    • Kokame, K.1    Matsumoto, M.2    Fujimura, Y.3
  • 27
    • 17144408687 scopus 로고    scopus 로고
    • FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay
    • Kokame K, Nobe Y, Kokubo Y, et al. 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
  • 28
    • 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, et al. Estimation of the von Willebrand factor-cleaving protease in plasma using monoclonal antibodies to vWF. Thromb Haemost 1999; 82: 1382-1385.
    • (1999) Thromb Haemost , vol.82 , pp. 1382-1385
    • Obert, B.1    Tout, H.2    Veyradier, A.3
  • 29
    • 0032569840 scopus 로고    scopus 로고
    • Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura
    • Tsai HM, Lian ECY. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med 1998; 339: 1585-1594.
    • (1998) N Engl J Med , vol.339 , pp. 1585-1594
    • Tsai, H.M.1    Lian, E.C.Y.2
  • 30
    • 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: 21773-21778.
    • (2005) J Biol Chem , vol.280 , pp. 21773-21778
    • Majerus, E.M.1    Anderson, P.J.2    Sadler, J.E.3
  • 31
    • 23844465898 scopus 로고    scopus 로고
    • The proximal carboxyl terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of Von Willebrand factor
    • Ai J, Smith P, Wang S, et al. The proximal carboxyl terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of Von Willebrand factor. J Biol Chem 2005; 280: 29428-29434.
    • (2005) J Biol Chem , vol.280 , pp. 29428-29434
    • Ai, J.1    Smith, P.2    Wang, S.3
  • 32
    • 22044446207 scopus 로고    scopus 로고
    • Cleavage of ultra-large multimers of Von Willebrand factor by C-terminal truncated mutants of ADAMTS-13 under flow
    • Tao Z, Wang Y, Choi H, et al. Cleavage of ultra-large multimers of Von Willebrand factor by C-terminal truncated mutants of ADAMTS-13 under flow. Blood 2005; 106: 141-143.
    • (2005) Blood , vol.106 , pp. 141-143
    • Tao, Z.1    Wang, Y.2    Choi, H.3
  • 33
    • 28844490990 scopus 로고    scopus 로고
    • Recombinant CUB-1 domain polypeptide inhibits the cleavage of ULVWF strings by ADAMTS13 under flow conditions
    • Tao Z, Peng Y, Nolasco L, et al. Recombinant CUB-1 domain polypeptide inhibits the cleavage of ULVWF strings by ADAMTS13 under flow conditions. Blood 2005; 106: 4139-4145.
    • (2005) Blood , vol.106 , pp. 4139-4145
    • Tao, Z.1    Peng, Y.2    Nolasco, L.3
  • 34
    • 34548693071 scopus 로고    scopus 로고
    • The carboxyl-terminal domains of ADAMTS13 cause substrate-dependent divergence of ADAMTS13 activity
    • Abstract
    • Zhou W, Tsai HM. The carboxyl-terminal domains of ADAMTS13 cause substrate-dependent divergence of ADAMTS13 activity. Blood (ASH Annual Meeting) 2006; 108: 381 (Abstract).
    • (2006) Blood (ASH Annual Meeting) , vol.108 , pp. 381
    • Zhou, W.1    Tsai, H.M.2
  • 35
    • 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 Y, Anderson PJ, Zheng XL, et al. 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: 10578-10583.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 10578-10583
    • Nishio, Y.1    Anderson, P.J.2    Zheng, X.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.