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Blood, 15 January 2004, Vol. 103, No. 2, pp. 627-629. Prepublished online as a Blood First Edition Paper on September 25, 2003; DOI 10.1182/blood-2003-04-1346. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-04-1346v1 103/2/627    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pimanda, J. E. Articles by Hogg, P. J. Search for Related Content PubMed PubMed Citation Articles by Pimanda, J. E. Articles by Hogg, P. J. Related Collections Hemostasis, Thrombosis, and Vascular Biology Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Brief report Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13 John E. Pimanda, Akiko Maekawa, Troels Wind, Julian Paxton, Colin N. Chesterman, and Philip J. Hogg From the Centre for Vascular Research, University of New South Wales, Sydney, Australia; Department of Haematology, Prince of Wales Hospital, Sydney, Australia; and Division of Paediatrics, Mildura Base Hospital, Mildura, Australia. Severe deficiency of the von Willebrand Factor (VWF)–cleaving proteinase, ADAMTS13, is associated with the development of thrombotic thrombocytopenic purpura (TTP). Several mutations spread across the ADAMTS13 gene have been identified in association with a deficiency of VWF-cleaving proteinase activity in patients with congenital TTP. The spread of these dysfunctional mutations and the domain structure of ADAMTS13 are suggestive of a complex interaction between the enzyme and its substrate. We have studied a patient with congenital TTP who is a compound heterozygote for the Thr196Ile mutation in the metalloproteinase domain and a frameshift mutation (4143-4144insA) in the second CUB domain that results in loss of the last 49 amino acids of the protein. The VWF-cleaving proteinase activity of the truncated enzyme was comparable to that of the wild-type enzyme but its secretion from transfected COS-7 cells was about 14% of the wild type. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: P. Zhang, W. Pan, A. H. Rux, B. S. Sachais, and X. L. Zheng The cooperative activity between the carboxyl-terminal TSP1 repeats and the CUB domains of ADAMTS13 is crucial for recognition of von Willebrand factor under flow Blood, September 15, 2007; 110(6): 1887 - 1894. [Abstract] [Full Text] [PDF] D. Shang, X. W. Zheng, M. Niiya, and X. L. Zheng Apical sorting of ADAMTS13 in vascular endothelial cells and Madin-Darby canine kidney cells depends on the CUB domains and their association with lipid rafts Blood, October 1, 2006; 108(7): 2207 - 2215. [Abstract] [Full Text] [PDF] F. Banno, K. Kokame, T. Okuda, S. Honda, S. Miyata, H. Kato, Y. Tomiyama, and T. Miyata Complete deficiency in ADAMTS13 is prothrombotic, but it alone is not sufficient to cause thrombotic thrombocytopenic purpura Blood, April 15, 2006; 107(8): 3161 - 3166. [Abstract] [Full Text] [PDF] B. Plaimauer, J. Fuhrmann, G. Mohr, W. Wernhart, K. Bruno, S. Ferrari, C. Konetschny, G. Antoine, M. Rieger, and F. Scheiflinger Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation Blood, January 1, 2006; 107(1): 118 - 125. [Abstract] [Full Text] [PDF] Z. Tao, Y. Peng, L. Nolasco, S. Cal, C. Lopez-Otin, R. Li, J. L. Moake, J. A. Lopez, and J.-f. Dong Recombinant CUB-1 domain polypeptide inhibits the cleavage of ULVWF strings by ADAMTS13 under flow conditions Blood, December 15, 2005; 106(13): 4139 - 4145. [Abstract] [Full Text] [PDF] W. Zhou, L. Dong, D. Ginsburg, E. E. Bouhassira, and H.-M. Tsai Enzymatically Active ADAMTS13 Variants Are Not Inhibited by Anti-ADAMTS13 Autoantibodies: A NOVEL THERAPEUTIC STRATEGY? J. Biol. Chem., December 2, 2005; 280(48): 39934 - 39941. [Abstract] [Full Text] [PDF] J. Ai, P. Smith, S. Wang, P. Zhang, and X. L. Zheng The Proximal Carboxyl-terminal Domains of ADAMTS13 Determine Substrate Specificity and Are All Required for Cleavage of von Willebrand Factor J. Biol. Chem., August 19, 2005; 280(33): 29428 - 29434. [Abstract] [Full Text] [PDF] G. G. Levy, D. G. Motto, and D. Ginsburg ADAMTS13 turns 3 Blood, July 1, 2005; 106(1): 11 - 17. [Abstract] [Full Text] [PDF] M. Noris, S. Bucchioni, M. Galbusera, R. Donadelli, E. Bresin, F. Castelletti, J. Caprioli, S. Brioschi, F. Scheiflinger, G. Remuzzi, et al. Complement Factor H Mutation in Familial Thrombotic Thrombocytopenic Purpura with ADAMTS13 Deficiency and Renal Involvement J. Am. Soc. Nephrol., May 1, 2005; 16(5): 1177 - 1183. [Abstract] [Full Text] [PDF] F. Banno, K. Kaminaka, K. Soejima, K. Kokame, and T. Miyata Identification of Strain-specific Variants of Mouse Adamts13 Gene Encoding von Willebrand Factor-cleaving Protease J. Biol. Chem., July 16, 2004; 279(29): 30896 - 30903. [Abstract] [Full Text] [PDF] X. L. Zheng, R. M. Kaufman, L. T. Goodnough, and J. E. Sadler Effect of plasma exchange on plasma ADAMTS13 metalloprotease activity, inhibitor level, and clinical outcome in patients with idiopathic and nonidiopathic thrombotic thrombocytopenic purpura Blood, June 1, 2004; 103(11): 4043 - 4049. [Abstract] [Full Text] [PDF]

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