SERPINC1 p.M313T variant induces aberrant O-Glycosylation and leads to conformational instability-related transient antithrombin deficiency
The SERPINC1 p.M313T variant exhibits dual characteristics of high inhibitory activity and low structural stability, which together contribute to the transient AT deficiency. These findings suggest that AT deficiency may be underdiagnosed and highlight the importance of integrating techniques such as native-urea PAGE into standard diagnostic workflows to identify variants associated with structural abnormalities.
Authors
- Jing Dai
- Qi Ding
- Xiaowei Wu (ORCID: https://orcid.org/0000-0002-3915-5785)
- Yinqi Mao
- C. Chen
- Xuefeng Wang (ORCID: https://orcid.org/0000-0001-9609-4117)
- Ke Zhang (ORCID: https://orcid.org/0000-0001-7982-5758)
- Wei Wu (ORCID: https://orcid.org/0000-0001-6984-3581)
- Lei Li (ORCID: https://orcid.org/0000-0001-8723-3461)
- Liya Lin
- Enhao Li (ORCID: https://orcid.org/0000-0002-8967-0654)
Institutions
- Shanghai Jiao Tong University (CN)
- Ruijin Hospital (CN)
- Shanghai Institute of Hematology (CN)
Publication Details
- Journal
- Thrombosis and Haemostasis
- Published
- 2026-03-20
- DOI
- https://doi.org/10.1055/a-2832-6199
- Primary Topic
- Blood Coagulation and Thrombosis Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00