Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema
Based on our findings, we propose that the detection of intracellular Ca<sup>2+</sup> concentration could serve as a valuable biomarker for predicting acute attacks of HAE in patients. This discovery holds significant implications for the development of more targeted and effective strategies in the management of HAE.
Authors
- Tingting Wang (ORCID: https://orcid.org/0000-0001-8051-405X)
- Suyang Duan
- Lingxi Jiang (ORCID: https://orcid.org/0000-0001-6037-6972)
- Luhan Zhang
- Zimeng Ye (ORCID: https://orcid.org/0000-0002-5578-9374)
- Yi Shi (ORCID: https://orcid.org/0000-0002-3053-2687)
- Xiumei Ma (ORCID: https://orcid.org/0000-0002-1433-8315)
- Chunbao Xie
- Chao Dai
Institutions
- The University of Sydney (AU)
- University of Electronic Science and Technology of China (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Cooperative Trials Group for Neuro-Oncology (AU)
- Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-13
- DOI
- https://doi.org/10.1186/s13023-024-03306-7
- Citations
- 6
- Primary Topic
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Type
- article
- Field-Weighted Citation Impact
- 2.63
Funders
- National Natural Science Foundation of China
- Department of Science and Technology of Sichuan Province