Pathologic mechanisms of type 1VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models

Blood

Volumn 117, Issue 16, 2011, Pages 4358-4366

  Pruss, Cynthia M ^a   Golder, Mia ^a   Bryant, Andrea ^a   Hegadorn, Carol A ^a   Burnett, Erin ^a   Laverty, Kimberly ^a   Sponagle, Kate ^a   Dhala, Aly ^a   Notley, Colleen ^a   Haberichter, Sandra ^b,c   Lillicrap, David ^a  

^a QUEEN S UNIVERSITY   (Canada)

^b BLOOD RESEARCH INSTITUTE   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYCOPROTEIN; PLASMID DNA; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; VWF PROTEIN;

ANIMAL EXPERIMENT; ARTICLE; BIOSYNTHESIS; CELL STRAIN COS7; CELL STRAIN HEK293; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL CULTURE; HYDRODYNAMICS; IN VITRO STUDY; IN VIVO STUDY; INFUSION; INJECTION; KNOCKOUT MOUSE; MOUSE; MUTAGENESIS; NONHUMAN; PHENOTYPE; PLASMID; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEFECT; PROTEIN EXPRESSION; THROMBOGENESIS; TYPE 1 VWF;

EID: 79955969561     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2010-08-303727     Document Type: Article

References (36)

1. Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev. 2010;24(3):123-134.
2. Lillicrap D. Genotype/phenotype association in von Willebrand disease: Is the glass half full or empty? J Thromb Haemost. 2009;7 suppl 1:65-70.
3. Casonato A, Pontara E, Sartorello F, et al. Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. Blood. 2002;99(1):180-184.
4. Haberichter SL, Castaman G, Budde U, et al. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the european study: Molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). Blood. 2008;111(10):4979-4985.
5. Casonato A, Pontara E, Sartorello F, et al. Identifying type Vicenza von Willebrand disease. J Lab Clin Med. 2006;147(2):96-102. (Pubitemid 43189002)
6. d'Alessio PA, Castaman G, Rodeghiero F, et al. In vivo experiments indicate that relatively high platelet deposition in von Willebrand's disease 'Vicenza' is caused by normal platelet-VWF levels rather than by high VWF-multimers in plasma. Thromb Res. 1992;65(2):221-228.
7. Bowman M, Mundell G, Grabell J, et al. Generation and validation of the condensed MCMDM-1VWD bleeding questionnaire for von Willebrand disease. J Thromb Haemost. 2008;6(12):2062-2066.
8. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). Blood. 2007;109(1):112-121. (Pubitemid 46053051)
9. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: Results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost. 2006;4(4):766-773.
10. Lenting PJ, Westein E, Terraube V, et al. An experimental model to study the in vivo survival of von Willebrand factor. basic aspects and application to the R1205H mutation. J Biol Chem. 2004;279(13):12102-12109. (Pubitemid 38445774)
11. Mannucci PM, Lombardi R, Castaman G, et al. Von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood. 1988;71(1):65-70. (Pubitemid 18050392)
12. Gezsi A, Budde U, Deak I, et al. Accelerated clearance alone explains ultralarge multimers in VWD Vicenza. J Thromb Haemost. 2010;8(6):1273-1280.
13. Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: Results of a multicenter European study. Blood. 2004;103(6):2032-2038. (Pubitemid 38326217)
14. Castaman G, Lethagen S, Federici AB, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): Results from the European study MCMDM-1VWD. Blood. 2008;111(7):3531-3539.
15. O'Brien LA, James PD, Othman M, et al. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood. 2003;102(2):549-557. (Pubitemid 36841974)
16. James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood. 2007;109(1):145-154. (Pubitemid 46053055)
17. Bowen DJ, Collins PW. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis byADAMTS13. Blood. 2004;103(3):941-947. (Pubitemid 38129554)
18. Keeney S, Grundy P, Collins PW, Bowen DJ. C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro. Haemophilia. 2007;13(4):405-408. (Pubitemid 47040170)
19. Marx I, Christophe OD, Lenting PJ, et al. Altered thrombus formation in von Willebrand factor-deficient mice expressing von Willebrand factor variants with defective binding to collagen or GPIIbIIIa. Blood. 2008;112(3):603-609.
20. Rayes J, Hollestelle MJ, Legendre P, et al. Mutation & ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B. Blood. 2010;115(23):4870-4877.
21. Golder M, Pruss CM, Hegadorn C, et al. Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. Blood. 2010;115(23):4862-4869.
22. Pruss CM, Notley CR, Hegadorn CA, O'Brien LA, Lillicrap D. ADAMTS13 cleavage efficiency is altered by mutagenic and, to a lesser extent, polymorphic sequence changes in the A1 and A2 domains of von Willebrand factor. Br J Haematol. 2008;143(4):552-558.
23. Shi CX, Graham FL, Hitt MM. A convenient plasmid system for construction of helper-dependent adenoviral vectors and its application for analysis of the breast-cancer-specific mammaglobin promoter. J Gene Med. 2006;8(4):442-51.
24. Vigna E, Amendola M, Benedicenti F, Simmons AD, Follenzi A, Naldini L. Efficient tet-dependent expression of human factor IX in vivo by a new self-regulating lentiviral vector. Mol Ther. 2005;11(5):763-775. (Pubitemid 40567981)
25. 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(2):607-612. (Pubitemid 38140094)
26. Plaimauer B, Zimmermann K, Volkel D, et al. Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13). Blood. 2002;100(10):3626-3632. (Pubitemid 35303932)
27. Kato S, Matsumoto M, Matsuyama T, Isonishi A, Hiura H, Fujimura Y. Novel monoclonal antibody-based enzyme immunoassay for determining plasma levels of ADAMTS13 activity. Transfusion. 2006;46(8):1444-1452. (Pubitemid 44117975)
28. Stakiw J, Bowman M, Hegadorn C, et al. The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. J Thromb Haemost. 2008;6(1):90-96.
29. Bruno K, Volkel D, Plaimauer B, et al. Cloning, expression and functional characterization of the full-length murine ADAMTS13. J Thromb Haemost. 2005;3(5):1064-1073. (Pubitemid 41632840)
30. Denis C, Methia N, Frenette PS, et al. A mouse model of severe von Willebrand disease: Defects in hemostasis and thrombosis. Proc Natl Acad Sci U S A. 1998;95(16):9524-9529. (Pubitemid 28506264)
31. Dubois C, Panicot-Dubois L, Merrill-Skoloff G, Furie B, Furie BC. Glycoprotein VI-dependent and -independent pathways of thrombus formation in vivo. Blood. 2006;107(10):3902-3906. (Pubitemid 43726794)
32. Gavins FN, Chatterjee BE. Intravital microscopy for the study of mouse microcirculation in antiinflammatory drug research: Focus on the mesentery and cremaster preparations. J Pharmacol Toxicol Methods. 2004;49(1):1-14. (Pubitemid 37506050)
33. Chitta MS, Duhe RJ, Kermode JC. Cloning of the cDNA for murine von Willebrand factor and identification of orthologous genes reveals the extent of conservation among diverse species. Platelets. 2007;18(3):182-198. (Pubitemid 46744122)
34. Varadi K, Rottensteiner H, Vejda S, et al. Species-dependent variability of ADAMTS13-mediated proteolysis of human recombinant von Willebrand factor. J Thromb Haemost. 2009;7(7):1134-1142.
35. Banno F, Kaminaka K, Soejima K, Kokame K, Miyata T. Identification of strain-specific variants of mouse Adamts13 gene encoding von Willebrand factor-cleaving protease. J Biol Chem. 2004;279(29):30896-30903. (Pubitemid 38938026)
36. Banno F, Chauhan AK, Kokame K, et al. The distal carboxyl-terminal domains of ADAMTS13 are required for regulation of in vivo thrombus formation. Blood. 2009;113(21):5323-5329.