Intracellular storage and regulated secretion of Von Willebrand factor in quantitative Von Willebrand disease

Journal of Biological Chemistry

Volumn 286, Issue 27, 2011, Pages 24180-24188

  Wang, Jiong Wei ^a   Valentijn, Karine M ^a   De Boer, Hetty C ^a   Dirven, Richard J ^a   Van Zonneveld, Anton Jan ^a   Koster, Abraham J ^a   Voorberg, Jan ^b   Reitsma, Pieter H ^a   Eikenboom, Jeroen ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CO-TRANSFECTIONS; ENDOPLASMIC RETICULUM; HEK293 CELLS; INTRACELLULAR RETENTION; VON WILLEBRAND FACTOR; WEIBEL-PALADE BODIES; WILD TYPES;

GENES; PHYSIOLOGY;

ENDOTHELIAL CELLS;

VON WILLEBRAND FACTOR;

ARTICLE; CONTROLLED STUDY; EMBRYO; ENDOPLASMIC RETICULUM; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTANT; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN SECRETION; VON WILLEBRAND DISEASE; WEIBEL PALADE BODY; WILD TYPE;

AMINO ACID SUBSTITUTION; HEK293 CELLS; HUMANS; MUTATION, MISSENSE; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR; WEIBEL-PALADE BODIES;

EID: 79959888777     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.215194     Document Type: Article

References (48)

1. Sadler, J. E. (1998) Annu. Rev. Biochem. 67, 395-424
2. Sadler, J. E., Budde, U., Eikenboom, J. C., Favaloro, E. J., Hill, F. G., Holmberg, L., Ingerslev, J., Lee, C. A., Lillicrap, D., Mannucci, P. M., Mazurier, C., Meyer, D., Nichols, W. L., Nishino, M., Peake, I. R., Rodeghiero, F., Schneppenheim, R., Ruggeri, Z. M., Srivastava, A., Montgomery, R. R., and Federici, A. B. (2006) J. Thromb. Haemost. 4, 2103-2114
3. Cumming, A., Grundy, P., Keeney, S., Lester, W., Enayat, S., Guilliatt, A., Bowen, D., Pasi, J., Keeling, D., Hill, F., Bolton-Maggs, P. H., Hay, C., and Collins, P. (2006) Thromb. Haemost. 96, 630-641
4. Goodeve, A., Eikenboom, J., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Schneppenheim, R., Budde, U., Ingerslev, J., Habart, D., Vorlova, Z., Holmberg, L., Lethagen, S., Pasi, J., Hill, F., Hashemi, S. M., Baronciani, L., Hallden, C., Guilliatt, A., Lester, W., and Peake, I. (2007) Blood. 109, 112-121
5. James, P. D., Notley, C., Hegadorn, C., Leggo, J., Tuttle, A., Tinlin, S., Brown, C., Andrews, C., Labelle, A., Chirinian, Y., O'Brien, L., Othman, M., Rivard, G., Rapson, D., Hough, C., and Lillicrap, D. (2007) Blood. 109, 145-154
6. Eikenboom, J. C. (2001) Best. Pract. Res. Clin. Haematol. 14, 365-379
7. Verweij, C. L., Diergaarde, P. J., Hart, M., and Pannekoek, H. (1986)EMBO J. 5, 1839-1847
8. Mayadas, T., Wagner, D. D., and Simpson, P. J. (1989) Blood. 73, 706-711
9. Giblin, J. P., Hewlett, L. J., and Hannah, M. J. (2008) Blood. 112, 957-964
10. Dong, J. F., Moake, J. L., Nolasco, L., Bernardo, A., Arceneaux, W., Shrimpton, C. N., Schade, A. J., McIntire, L. V., Fujikawa, K., and López, J. A. (2002) Blood. 100, 4033-4039
11. Sporn, L. A., Marder, V. J., and Wagner, D. D. (1986) Cell. 46, 185-190
12. Sporn, L. A., Marder, V. J., and Wagner, D. D. (1987) Blood. 69, 1531-1534
13. Ewenstein, B. M., Warhol, M. J., Handin, R. I., and Pober, J. S. (1987) J. Cell Biol. 104, 1423-1433
14. Hop, C., Guilliatt, A., Daly, M., de Leeuw, H. P., Brinkman, H. J., Peake, I. R., van Mourik, J. A., and Pannekoek, H. (2000) Arterioscler. Thromb. Vasc. Biol. 20, 1763-1768
15. Voorberg, J., Fontijn, R., Calafat, J., Janssen, H., van Mourik, J. A., and Pannekoek, H. (1993) EMBO J. 12, 749-758
16. Wagner, D. D., Saffaripour, S., Bonfanti, R., Sadler, J. E., Cramer, E. M., Chapman, B., and Mayadas, T. N. (1991) Cell 64, 403-413
17. Michaux, G., Hewlett, L. J., Messenger, S. L., Goodeve, A. C., Peake, I. R., Daly, M. E., and Cutler, D. F. (2003) Blood. 102, 2452-2458
18. Michaux, G., Abbitt, K. B., Collinson, L. M., Haberichter, S. L., Norman, K. E., and Cutler, D. F. (2006) Dev. Cell. 10, 223-232
19. Huang, R. H., Wang, Y., Roth, R., Yu, X., Purvis, A. R., Heuser, J. E., Egelman, E. H., and Sadler, J. E. (2008) Proc. Natl. Acad. Sci. U.S.A. 105, 482-487
20. Eikenboom, J. C., Matsushita, T., Reitsma, P. H., Tuley, E. A., Castaman, G., Briët, E., and Sadler, J. E. (1996) Blood. 88, 2433-2441
21. Eikenboom, J., Hilbert, L., Ribba, A. S., Hommais, A., Habart, D., Messen-ger, S., Al-Buhairan, A., Guilliatt, A., Lester, W., Mazurier, C., Meyer, D., Fressinaud, E., Budde, U., Will, K., Schneppenheim, R., Obser, T., Marggraf, O., Eckert, E., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Goudemand, J., Ingerslev, J., Lethagen, S., Hill, F., Peake, I., and Goodeve, A. (2009) J. Thromb. Haemost. 7, 1304-1312
22. Tjernberg, P., Castaman, G., Vos, H. L., Bertina, R. M., and Eikenboom, J. C. (2006) Br. J. Haematol. 133, 409-418
23. Tjernberg, P., Vos, H. L., Castaman, G., Bertina, R. M., and Eikenboom, J. C. (2004) J. Thromb Haemost 2, 257-265
24. Allen, S., Abuzenadah, A. M., Hinks, J., Blagg, J. L., Gursel, T., Ingerslev, J., Goodeve, A. C., Peake, I. R., and Daly, M. E. (2000) Blood 96, 560-568
25. Allen, S., Abuzenadah, A. M., Blagg, J. L., Hinks, J., Nesbitt, I. M., Goodeve, A. C., Gursel, T., Ingerslev, J., Peake, I. R., and Daly, M. E. (2000) Blood. 95, 2000-2007
26. Casonato, A., Cattini, M. G., Soldera, C., Marcato, S., Sartorello, F., Pontara, E., and Pagnan, A. (2004) J. Lab. Clin. Med. 144, 254-259
27. Casonato, A., Sartorello, F., Cattini, M. G., Pontara, E., Soldera, C., Bertomoro, A., and Girolami, A. (2003) Blood. 101, 151-156
28. Casonato, A., Sartorello, F., Pontara, E., Gallinaro, L., Bertomoro, A., Grazia, C. M., Daidone, V., Szukowska, M., and Pagnan, A. (2007) Thromb Haemost 98, 1182-1187
29. Hommais, A., Stépanian, A., Fressinaud, E., Mazurier, C., Meyer, D., Girma, J. P., and Ribba, A. S. (2006) J. Thromb. Haemost. 4, 148-157
30. Rosenberg, J. B., Haberichter, S. L., Jozwiak, M. A., Vokac, E. A., Kroner, P. A., Fahs, S. A., Kawai, Y., and Montgomery, R. R. (2002) Blood. 100, 1699-1706
31. Hampshire, D. J., Burghel, G. J., Goudemand, J., Bouvet, L. C., Eikenboom, J. C., Schneppenheim, R., Budde, U., Peake, I. R., and Goodeve, A. C. (2010) Haematologica. 95, 2163-2165
32. Zhang, Z. P., Blombäck, M., Egberg, N., Falk, G., and Anvret, M. (1994) Genomics. 21, 188-193
33. Schneppenheim, R., Budde, U., Obser, T., Brassard, J., Mainusch, K., Ruggeri, Z. M., Schneppenheim, S., Schwaab, R., and Oldenburg, J. (2001) Blood. 97, 2059-2066
34. Jaffe, E. A., Nachman, R. L., Becker, C. G., and Minick, C. R. (1973) J. Clin. Invest. 52, 2745-2756
35. Romani de, Wit, T., Rondaij, M. G., Hordijk, P. L., Voorberg, J., and van Mourik, J. A. (2003) Arterioscler. Thromb. Vasc. Biol. 23, 755-761
36. Benham, A. M., Cabibbo, A., Fassio, A., Bulleid, N., Sitia, R., and Braakman, I. (2000) EMBO J. 19, 4493-4502
37. Mommaas, A. M., Mulder, A. A., Out, C. J., Girolomoni, G., Koerten, H. K., Vermeer, B. J., and Koning, F. (1995) Eur. J. Immunol. 25, 520-525
38. Valentijn, K. M., Valentijn, J. A., Jansen, K. A., and Koster, A. J. (2008) J. Struct. Biol. 161, 447-458
39. Bodó, I., Katsumi, A., Tuley, E. A., Eikenboom, J. C., Dong, Z., and Sadler, J. E. (2001) Blood 98, 2973-2979
40. Tjernberg, P., Vos, H. L., Spaargaren-van Riel, C. C., Luken, B. M., Voorberg, J., Bertina, R. M., and Eikenboom, J. C. (2006) Thromb. Haemost. 96, 717-724
41. Wang, J. W., and Eikenboom, J. (2010) Hamostaseologie. 30, 150-155
42. Schooten, C. J., Tjernberg, P., Westein, E., Terraube, V., Castaman, G., Mourik, J. A., Hollestelle, M. J., Vos, H. L., Bertina, R. M., Berg, H. M., Eikenboom, J. C., Lenting, P. J., and Denis, C. V. (2005) J. Thromb. Haemost. 3, 2228-2237
43. Lui-Roberts, W. W., Collinson, L. M., Hewlett, L. J., Michaux, G., and Cutler, D. F. (2005) J. Cell Biol. 170, 627-636
44. Zenner, H. L., Collinson, L. M., Michaux, G., and Cutler, D. F. (2007) J. Cell Sci. 120, 2117-2125
45. Berriman, J. A., Li, S., Hewlett, L. J., Wasilewski, S., Kiskin, F. N., Carter, T., Hannah, M. J., and Rosenthal, P. B. (2009) Proc. Natl. Acad. Sci. U.S.A. 106, 17407-17412
46. Federici, A. B. (2008) Haemophilia 14, Suppl. 1, 5-14
47. Schneppenheim, R., Michiels, J. J., Obser, T., Oyen, F., Pieconka, A., Schneppenheim, S., Will, K., Zieger, B., and Budde, U. (2010) Blood. 115, 4894-4901
48. Castaman, G., Giacomelli, S. H., Jacobi, P., Obser, T., Budde, U., Rodeghiero, F., Haberichter, S. L., and Schneppenheim, R. (2010) J. Thromb. Haemost. 8, 2011-2016