Elisabetta Castoldi

Associate professor

Dr Elisabetta Castoldi studied Biology (with a major in Molecular Genetics) at Ferrara University (Italy) and graduated cum laudein 1996. After defending her PhD thesis entitled 'Molecular bases of APC resistance and factor V deficiency in thrombophilia' under the supervision of Prof. Francesco Bernardi (2001), she moved to Maastricht University (The Netherlands) for post-doctoral training in coagulation biochemistry in Prof. Jan Rosing’s laboratory. In 2006, she was awarded a Vidi grant from the Netherlands Organisation for Scientific Research (NWO), which allowed her to establish her own research line.

Her research activity focusses on the elucidation of (inherited) coagulation defects that predispose to bleeding or venous thrombosis, with particular reference to factor V, the protein C pathway and the tissue factor pathway inhibitor system. Her work spans the whole flow of genetic information from DNA (mutation screening and interpretation), to RNA (mRNA analysis, with special emphasis on pre-mRNA splicing and its regulation) and protein (functional assays in model systems and in plasma). Most recently, she has been exploringthe unique functional properties of alternatively spliced variants of fibrinogen (fibrinogen γ’) and FV (FV-short).


Department of Biochemistry
Universiteitsingel 50, 6229 ER Maastricht
PO Box 616, 6200 MD Maastricht
Room number: H4.356
T: +31(0)43 388 41 60

  • 2020
    • van Doorn, P., Rosing, J., Campello, E., Middeldorp, S., Simioni, P., Meijers, J. C. M., Hackeng, T. M., & Castoldi, E. (2020). Development of a Plasma-Based Assay to Measure the Susceptibility of Factor V to Inhibition by the C-Terminus of TFPI alpha. Thrombosis and Haemostasis, 120(1), 55-64. https://doi.org/10.1055/s-0039-1700516
  • 2019
    • Ibrahim-Kosta, M., Suchon, P., Couturaud, F., Smadja, D., Olaso, R., Germain, M., Saut, N., Goumidi, L., Derbois, C., Thibord, F., Debette, S., Amouyel, P., Deleuze, J. F., van Doorn, P., Castoldi, E., Patin, E., Alessi, M. C., Tregouet, D. A., & Morange, P. E. (2019). Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation. Scientific Reports, 9, [3750]. https://doi.org/10.1038/s41598-019-40172-x
  • 2018
    • van Doorn, P., Rosing, J., Duckers, C., Hackeng, T. M., Simioni, P., & Castoldi, E. (2018). Factor V Has Anticoagulant Activity in Plasma in the Presence of TFPI: Difference between FV1 and FV2. Thrombosis and Haemostasis, 118(7), 1194-1202. https://doi.org/10.1055/s-0038-1656549
    • De Maertelaere, E., Castoldi, E., Van Haute, I., Deeren, D., & Devreese, K. M. (2018). The interaction of factor V and tissue factor pathway inhibitor in a myeloma patient with acquired factor V deficiency. Haemophilia, 24(3), E160-E163. https://doi.org/10.1111/hae.13492
  • 2017
    • Nuzzo, F., Beshlawi, I., Wali, Y., & Castoldi, E. (2017). High incidence of intracranial bleeding in factor V-deficient patients with homozygous F5 splicing mutations. British Journal of Haematology, 179(1), 163-166. https://doi.org/10.1111/bjh.14195
    • Alshaikh, N. A., Rosing, J., Thomassen, M. C. L. G. D., Castoldi, E., Simioni, P., & Hackeng, T. M. (2017). New functional assays to selectively quantify the activated protein C- and tissue factor pathway inhibitor-cofactor activities of protein S in plasma. Journal of Thrombosis and Haemostasis, 15(5), 950-960. https://doi.org/10.1111/jth.13657
    • van Doorn, P., Rosing, J., Wielders, S. J., Hackeng, T. M., & Castoldi, E. (2017). The C-terminus of tissue factor pathway inhibitor-alpha inhibits factor V activation by protecting the Arg(1545) cleavage site. Journal of Thrombosis and Haemostasis, 15(1), 140-149. https://doi.org/10.1111/jth.13559
  • 2016
    • Radu, C. M., Spiezia, L., Bulato, C., Gavasso, S., Campello, E., Sartorello, F., Castoldi, E., & Simioni, P. (2016). Endocytosis of exogenous factor V by ex-vivo differentiated megakaryocytes from patients with severe parahaemophilia. British Journal of Haematology, 175(3), 517-524. https://doi.org/10.1111/bjh.14262
    • Dargaud, Y., Jourdy, Y., Le Quellec, S., Hemker, H., Lindhout, T., Castoldi, E., & Negrier, C. (2016). Effect of five therapeutic strategies on the coagulation defect induced by the thrombomodulin c.1611C > A mutation. British Journal of Haematology, 174(6), 993-996. https://doi.org/10.1111/bjh.13833
    • Pezeshkpoor, B., Castoldi, E., Mahler, A., Hanel, D., Mueller, J., Hamedani, N. S., Biswas, A., Oldenburg, J., & Pavlova, A. (2016). Identification and functional characterization of a novel F5 mutation (Ala512Val, FVBonn) associated with activated protein C resistance. Journal of Thrombosis and Haemostasis, 14(7), 1353-1363. https://doi.org/10.1111/jth.13339