The severe von Willebrand disease variant p.M771V leads to impaired anterograde trafficking of von Willebrand factor in patient-derived and base-edited endothelial colony-forming cells
The severe endothelial phenotype observed in patient-derived p.M771V ECFCs, HEK293 cells, and an original base-edited CB-ECFC modeling system show that endoplasmic reticulum retention of VWF and failure to undergo subsequent proteolytic processing underpins the severe bleeding phenotype of patients with homozygous variants at M771.
Authors
- Frank W.G. Leebeek (ORCID: https://orcid.org/0000-0001-5677-1371)
- Petra E. Bürgisser (ORCID: https://orcid.org/0000-0002-7832-8028)
- Jeroen C.J. Eikenboom (ORCID: https://orcid.org/0000-0002-3268-5759)
- Ruben Bierings (ORCID: https://orcid.org/0000-0002-1205-9689)
- Allison Barraclough (ORCID: https://orcid.org/0000-0003-1615-0540)
- Jan Voorberg (ORCID: https://orcid.org/0000-0003-4585-2621)
- Karin Fijnvandraat (ORCID: https://orcid.org/0000-0003-0904-4360)
- Ilana Bar (ORCID: https://orcid.org/0000-0002-4032-1904)
- Calvin van Kwawegen (ORCID: https://orcid.org/0000-0002-3822-1496)
Institutions
- Twitter (United States) (US)
- Leiden University (NL)
- Erasmus MC (NL)
- Sanquin (NL)
- Emma Kinderziekenhuis (NL)
- Amsterdam University Medical Centers (NL)
- University of Amsterdam (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Thrombosis and Haemostasis
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1016/j.jtha.2024.10.023
- Citations
- 3
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.36
Funders
- CSL Behring
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Stichting Haemophilia