Page 197 - 2020_08-Haematologica-web

Coagulation factor carboxylation in mammalian cells
Conundrum of "Warfarin Hypersensitivity": Prolonged Partial Thromboplastin Time From Factor IX Propeptide Mutation. Am J Ther. 2016; 23(3):e911-915.
28. Chu K, Wu SM, Stanley T, Stafford DW, High KA. A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism. J Clin Invest. 1996; 98(7):1619-1625.
29. Ware J, Diuguid DL, Liebman HA, et al. Factor IX San Dimas. Substitution of gluta- mine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties. J Biol Chem. 1989;264(19):11401-11406.
30. Bentley AK, Rees DJ, Rizza C, Brownlee GG. Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4. Cell. 1986;45(3):343-348.
31. Ulrich S, Brand B, Speich R, Oldenburg J, Asmis L. Congenital hypersensitivity to vitamin K antagonists due to FIX propep- tide mutation at locus -10: a (not so) rare cause of bleeding under oral anticoagulant therapy in Switzerland. Swiss Med Wkly. 2008;138(7-8):100-107.
32. Aegerter C, Fontana S, Fux C, Demarmels Biasiutti F. Life threatening bleeding under adequate oral anticoagulation. Cases 4a, b. Hamostaseologie. 2003;23(3):113-116.
33. Baker P, Clarke K, Giangrande P, Keeling D. Ala-10 mutations in the factor IX propep- tide and haemorrhage in a patient treated with warfarin. Br J Haematol. 2000;108(3): 663.
34. Wojcik EG, Van Den Berg M, Poort SR,
Bertina RM. Modification of the N-termi- nus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced confor- mation: effects on phospholipid binding and activation by factor XIa. Biochem J. 1997;323 (Pt 3):629-636.
35. de la Salle C, Charmantier JL, Ravanat C, et al. The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa. Nouv Rev Fr Hematol. 1993;35(5):473-480.
36. Furie BC, Ratcliffe JV, Tward J, et al. The gamma-carboxylation recognition site is sufficient to direct vitamin K-dependent carboxylation on an adjacent glutamate- rich region of thrombin in a propeptide- thrombin chimera. J Biol Chem. 1997;272 (45):28258-28262.
Methods Enzymol. 2017;584:349-394.
41. Bristol JA, Freedman SJ, Furie BC, Furie B. Profactor IX: the propeptide inhibits bind- ing to membrane surfaces and activation by factor XIa. Biochemistry. 1994;33(47):
14136-14143.
42. Benton ME, Price PA, Suttie JW. Multi-site-
specificity of the vitamin K-dependent car- boxylase: in vitro carboxylation of des- gamma-carboxylated bone Gla protein and Des-gamma-carboxylated pro bone Gla protein. Biochemistry. 1995;34(29):9541- 9551.
43. Engelke JA, Hale JE, Suttie JW, Price PA. Vitamin K-dependent carboxylase: utiliza- tion of decarboxylated bone Gla protein and matrix Gla protein as substrates. Biochim Biophys Acta. 1991;1078(1):31-
37. Hallgren KW, Hommema EL, McNally BA, 34.
Berkner KL. Carboxylase overexpression effects full carboxylation but poor release and secretion of factor IX: implications for the release of vitamin K-dependent pro- teins. Biochemistry. 2002;41(50):15045- 15055.
38. Wallin R, Martin LF. Early processing of prothrombin and factor X by the vitamin K-dependent carboxylase. J Biol Chem. 1988;263(20):9994-10001.
39. Sanford DG, Kanagy C, Sudmeier JL, Furie BC, Furie B, Bachovchin WW. Structure of the propeptide of prothrombin containing the gamma-carboxylation recognition site determined by two-dimensional NMR spectroscopy. Biochemistry. 1991;30(41): 9835-9841.
40. Tie JK, Stafford DW. Functional Study of the Vitamin K Cycle Enzymes in Live Cells.
44. Theuwissen E, Cranenburg EC, Knapen MH, et al. Low-dose menaquinone-7 sup- plementation improved extra-hepatic vita- min K status, but had no effect on throm- bin generation in healthy subjects. Br J Nutr. 2012;108(9):1652-1657.
45. Kuwabara A, Fujii M, Kawai N, Tozawa K, Kido S, Tanaka K. Bone is more susceptible to vitamin K deficiency than liver in the institutionalized elderly. Asia Pac J Clin Nutr. 2011;20(1):50-55.
46. Rejnmark L, Vestergaard P, Charles P, et al. No effect of vitamin K1 intake on bone mineral density and fracture risk in peri- menopausal women. Osteoporos Int. 2006;17(8):1122-1132.
47. Price PA, Kaneda Y. Vitamin K counteracts the effect of warfarin in liver but not in bone. Thromb Res. 1987;46(1):121-131.
haematologica | 2020; 105(8)
2173