von Willebrand disease biology

Haemophilia

Volumn 18, Issue SUPPL.4, 2012, Pages 141-147

  Blomback M ^a   Eikenboom, J ^b   Lane, D ^c   Denis, C ^d   Lillicrap, D ^e  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

^d Dept Environ Med Natl Inst Publ HIth   (Norway)

^e QUEEN S UNIVERSITY   (Canada)

Author keywords

Von Willebrand factor; Von Willebrand's disease

Indexed keywords

ANGIOPOIETIN 2; BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; INTERLEUKIN 8; PADGEM PROTEIN; TISSUE PLASMINOGEN ACTIVATOR; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING TENDENCY; BLEEDING TIME; BLOOD CLOTTING; BLOOD CLOTTING PARAMETERS; BLOOD COMPONENT THERAPY; CELL STRAIN HEK293; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE MUTATION; HEMOPHILIA; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROCESSING; PROTEIN SECRETION; THROMBOCYTE FUNCTION; THROMBOSIS; VON WILLEBRAND DISEASE; WEIBEL PALADE BODY;

ADAM PROTEINS; ANIMALS; DISEASE MODELS, ANIMAL; FINLAND; HISTORY, 20TH CENTURY; HUMANS; MICE; MUTATION, MISSENSE; PEDIGREE; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR; WEIBEL-PALADE BODIES;

EID: 84862896148     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2012.02840.x     Document Type: Article

References (45)

1. von Willebrand EA. Hereditär pseudohemofili. Svenska Läkaresällskapets Handlingar 1926; 67: 87-112.
2. Blombäck M. Scientific visits to the Åland islands. Haemophilia 1999; 5(Suppl. 2): 12-8.
3. Nilsson IM, Blombäck M, von Francken I. On an inherited autosomal hemorrhagic diathesis with antihemophilic globulin (AHG) deficiency and prolonged bleeding time. Acta Med Scand 1957; 59: 35-57.
4. Blombäck M. Memories of my research into von Willebrand's disease. Haemophilia 2012; 18: 3-6.
5. Blombäck B. A journey with bleeding time factor. In: Semenza G ed. Comprehensive Biochemistry Stories of Success - Personal Recollections, Vol. 45, Chapter 6. Amsterdam: Elsevier B. V., 2007: 209-55.
6. Nilsson IM, Blombäck M, Blombäck B. von Willebrand disease in Sweden. Its treatment and pathogenesis. Acta Med Scand 1959; 164: 263-78.
7. Nilsson IM, Blombäck M, Jorpes E, Blombäck B, Johansson S-A. v.Willebrand's disease its correction with human Fraction I-0. Acta Med Scand 1957; 59: 179-88.
8. Nyman D, Blombäck M, Lehmann W, Frants RR, Eriksson AW. Blood coagulation studies in bleeder families on the Åland islands. Sigrid Juselius symposium 1978. In: Eriksson AW ed. Population Structure and Genetic Disorders, Vol. 45. London: Academic Press, 1980: 547-52.
9. Nyman D, Eriksson AW, Blombäck M, Frants RR, Wahlberg P. Recent investigations of the first bleeder family in Åland (Finland) described by von Willebrand. Thromb Haemost 1981; 45: 73-6.
10. Nyman D, Eriksson AW, Lehmann W, Blombäck M. Inherited defective aggregation with arachidonate as the main expression of a defective metabolism of arachidonic acid. Thromb Res 1979; 14: 739-46.
11. Anvret M, Blombäck M, Lindstedt M, Söderlind E, Tapper-Persson M, Thelander A-C. Genetic and blood coagulation characterization of 'Swedish' families with von Willebrand's Disease types I and III: new aspects of heredity. Hum Genet 1992; 89: 147-54.
12. Zhang ZP, Lindstedt M, Falk G, Blombäck M, Egberg N, Anvret M. Nonsense mutations of the von Willebrand Factor Gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 1992; 51: 850-8.
13. Zhang Z. Characterization of the von Willebrand Factor gene in von Willebrand disease types 1 and 3 patients. PhD Thesis. Karolinska Institutet: Stockholm, Sweden 1995. ISBN -91-628-1545-8.
14. Zhang ZP, Blombäck M, Nyman D, Anvret M. Mutaions of von Willebrand factor gene in families with von Willebrand's disease in the Åland islands. PNAS Genomics 1993; 90: 7937-40.
15. Valentijn KM, Sadler JE, Valentijn JA, Voorberg J, Eikenboom J. Functional architecture of Weibel-Palade bodies. Blood 2011; 117: 5033-43.
16. Weibel ER, Palade GE. New cytoplasmic components in arterial endothelia. J Cell Biol 1964; 23: 101-12.
17. Huang RH, Wang Y, Roth R et al. Assembly of Weibel-Palade body-like tubules from N-terminal domains of von Willebrand factor. ProcNatlAcadSci USA 2008; 105: 482-7.
18. Babich V, Meli A, Knipe L et al. Selective release of molecules from Weibel-Palade bodies during a lingering kiss. Blood 2008; 111: 5282-90.
19. Valentijn KM, van Driel LF, Mourik MJ et al. Multigranular exocytosis of Weibel-Palade bodies in vascular endothelial cells. Blood 2010; 116: 807-16.
20. 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: 3531-9.
21. Wang JW, Valentijn KM, de Boer HC et al. Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease. J Biol Chem 2011; 286: 24180-8.
22. van den Biggelaar M, Meijer AB, Voorberg J, Mertens K. Intracellular cotrafficking of factor VIII and von Willebrand factor type 2N variants to storage organelles. Blood 2009; 113: 3102-9.
23. Wang JW, Groeneveld DJ, Cosemans G et al. Biogenesis of Weibel-Palade bodies in von Willebrand disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation. Haematologica 2011. [Epub ahead of print] doi:
24. Moake JL, Turner NA, Stathopoulos NA, Nolasco LH, Hellums JD. Involvement of large plasma von Willebrand factor (vWF) multimers and unusually large vWF forms derived from endothelial cells in shear stress-induced platelet aggregation. J Clin Invest 1986; 78: 1456-61.
25. Zheng X, 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.
26. Levy GG et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488-94.
27. Crawley JT, de Groot R, Xiang Y, Luken BM, Lane DA. Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor. Blood 2011; 118: 3212-21.
28. Gardner MD et al. A functional calcium-binding site in the metalloprotease domain of ADAMTS13. Blood 2009; 113: 1149-57.
29. Tsai HM, Sussman II, Nagel RL. Shear stress enhances the proteolysis of von Willebrand factor in normal plasma. Blood 1994; 83: 2171-9.
30. Zhang Q et al. Structural specializations of A2, a force-sensing domain in the ultralarge vascular protein von Willebrand factor. Proc Natl Acad Sci U S A 2009; 106: 9226-31.
31. Luken BM, Winn LY, Emsley J, Lane DA, Crawley JT. The importance of vicinal cysteines, C1669 and C1670, for von Willebrand factor A2 domain function. Blood 2010; 115: 4910-3.
32. Zanardelli S et al. A novel binding site for ADAMTS13 constitutively exposed on the surface of globular VWF. Blood 2009; 114: 2819-28.
33. Feys HB, Anderson PJ, Vanhoorelbeke K, Majerus EM, Sadler JE. Multi-step binding of ADAMTS-13 to von Willebrand factor. J Thromb Haemost 2009; 7: 2088-95.
34. Pos W et al. An autoantibody epitope comprising residues R660, Y661, and Y665 in the ADAMTS13 spacer domain identifies a binding site for the A2 domain of VWF. Blood 2010; 115: 1640-9.
35. Jin SY, Skipwith CG, Zheng XL. Amino acid residues Arg(659), Arg(660), and Tyr(661) in the spacer domain of ADAMTS13 are critical for cleavage of von Willebrand factor. Blood 2010; 115: 2300-10.
36. de Groot R, Bardhan A, Ramroop N, Lane DA, Crawley JT. Essential role of the disintegrin-like domain in ADAMTS13 function. Blood 2009; 113: 5609-16.
37. Xiang Y, de Groot R, Crawley JT, Lane DA. Mechanism of von Willebrand factor scissile bond cleavage by a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). Proc Natl Acad Sci USA 2011; 108: 11602-7.
38. de Groot R, Lane DA, Crawley JT. The ADAMTS13 metalloprotease domain: roles of subsites in enzyme activity and specificity. Blood 2010; 116: 3064-72.
39. Pendu R, Christophe OD, Denis CV. Mouse models of von Willebrand disease. J Thromb Haemost 2009; 7(Suppl. 1): 61-4.
40. Johnsen JM, Levy GG, Westrick RJ, Tucker PK, Ginsburg D. The endothelial-specific regulatory mutation, Mvwf1, is a common mouse founder allele. Mamm Genome 2008; 19: 32-40.
41. Ellies LG, Ditto D, Levy GG et al. Sialyltransferase ST3Gal-IV operates as a dominant modifier of hemostasis by concealing asialoglycoprotein receptor ligands. ProcNatlAcadSci U S A 2002; 99: 10042-7.
42. Pruss CM, Golder M, Bryant A et al. Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models. Blood 2011; 117: 4358-66.
43. 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: 4862-9.
44. Rayes J, Hollestelle MJ, Legendre P et al. Mutation and ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B. Blood 2010; 115: 4870-7.
45. 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 USA 1998; 95: 9524-9.