Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations
This integrated clinical, biochemical, and structural study reveals that A2 domain variants in type 2A VWD contribute to disease through multiple mechanisms, including impaired multimerization, altered susceptibility to proteolysis, and increased clearance.
Authors
- Paola Colpani (ORCID: https://orcid.org/0000-0003-4180-6011)
- Omid Seidizadeh (ORCID: https://orcid.org/0000-0002-6630-7879)
- Flora Peyvandi (ORCID: https://orcid.org/0000-0001-7423-9864)
- Luciano Baronciani (ORCID: https://orcid.org/0000-0003-1186-6005)
- Luca Mollica (ORCID: https://orcid.org/0000-0001-5403-9507)
- Andrea Cairo
- Lea Sicuro
- Davide Giana (ORCID: https://orcid.org/0009-0009-4826-9483)
Institutions
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
Publication Details
- Journal
- Research and Practice in Thrombosis and Haemostasis
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1016/j.rpth.2025.103233
- Citations
- 1
- Primary Topic
- Platelet Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.77