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

  • 2024
    • Todaro, A. M., Radu, C. M., Ciccone, M., Toffanin, S., Serino, M. L., Campello, E., Bulato, C., Lunghi, B., Gemmati, D., Cuneo, A., Hackeng, T. M., Simioni, P., Bernardi, F., & Castoldi, E. (2024). In vitro and ex vivo rescue of a nonsense mutation responsible for severe coagulation factor V deficiency. Journal of Thrombosis and Haemostasis, 22(2), 410-422. https://doi.org/10.1016/j.jtha.2023.10.007
  • 2023
    • Danckwardt, S., Tregouet, D.-A., & Castoldi, E. (2023). Post-transcriptional control of haemostatic genes: mechanisms and emerging therapeutic concepts in thrombo-inflammatory disorders. Cardiovascular Research, 119(8), 1624-1640. https://doi.org/10.1093/cvr/cvad046
    • Castoldi, E. (2023). Making sense of FV short. Blood, 141(26), 3134-3135. https://doi.org/10.1182/blood.2023020274
    • Moore, G. W., Castoldi, E., Teruya, J., Morishita, E., & Adcock, D. M. (2023). Factor V Leiden-independent activated protein C resistance: Communication from the plasma coagulation inhibitors subcommittee of the International Society on Thrombosis and Haemostasis Scientific and Standardisation Committee. Journal of Thrombosis and Haemostasis, 21(1), 164-174. https://doi.org/10.1016/j.jtha.2022.10.014
  • 2021
    • Todaro, A. M., Hackeng, T. M., & Castoldi, E. (2021). Antisense-Mediated Down-Regulation of Factor V-Short Splicing in a Liver Cell Line Model. Applied Sciences, 11(20), Article 9621. https://doi.org/10.3390/app11209621
    • Castoldi, E. (2021). F5-Atlanta: Factor V-short strikes again. Journal of Thrombosis and Haemostasis, 19(7), 1638-1640. https://doi.org/10.1111/jth.15351
    • Denisov, S. S., Ippel, J. H., Castoldi, E., Mans, B. J., Hackeng, T. M., & Dijkgraaf, I. (2021). Molecular basis of anticoagulant and anticomplement activity of the tick salivary protein Salp14 and its homologs. Journal of Biological Chemistry, 297(1), Article 100865. https://doi.org/10.1016/j.jbc.2021.100865
    • Iding, A. F. J., Witten, A., Isaacs, A., Castoldi, E., ten Cate, H., Stoll, M., & ten Cate-Hoek, A. J. (2021). Leukocyte gene expression in post-thrombotic syndrome. Thrombosis Research, 202, 40-42. https://doi.org/10.1016/j.thromres.2021.03.007
    • Castoldi, E., Hézard, N., Mourey, G., Wichapong, K., Poggi, M., Ibrahim-Kosta, M., Thomassen, M. C. L. G. D., Fournel, A., Hayward, C. P. M., Alessi, M.-C., Hackeng, T. M., Rosing, J., & Morange, P.-E. (2021). Severe thrombophilia in a factor V-deficient patient homozygous for the Ala2086Asp mutation (FV Besançon). Journal of Thrombosis and Haemostasis, 19(5), 1186-1199. https://doi.org/10.1111/jth.15274
    • Simioni, P., Cagnin, S., Sartorello, F., Sales, G., Pagani, L., Bulato, C., Gavasso, S., Nuzzo, F., Chemello, F., Radu, C. M., Tormene, D., Spiezia, L., Hackeng, T. M., Campello, E., & Castoldi, E. (2021). Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia. Blood, 137(17), 2383-2393. https://doi.org/10.1182/blood.2020008168