Sorsby Fundus Dystrophy in an Asian Pedigree: Pathogenic Timp3 P.Y191c Variant Impairs Its Binding with Mmp2/9 and Cellular Localization
The novel <i>TIMP3</i> p.Y191C variant causes SFD in an Asian pedigree. Its pathogenicity arises from distinct disruptions in MMP2/9 binding and inhibition, coupled with altered MMP2 localization, thereby providing a mechanistic basis for the disease.
Authors
- Haiying Peng
- Zhongqiang Zhou (ORCID: https://orcid.org/0000-0003-3738-9251)
- Pingling Shi
- He Tang (ORCID: https://orcid.org/0000-0002-1169-9035)
- Yuanmeng Wei
- Shu Ding (ORCID: https://orcid.org/0000-0001-5660-8507)
- Ye Tao (ORCID: https://orcid.org/0000-0002-7325-9377)
- Yingjuan Liang
- Guanfeng Li (ORCID: https://orcid.org/0000-0003-0617-4944)
- Miao Li (ORCID: https://orcid.org/0009-0005-5419-8432)
- Zongming Song (ORCID: https://orcid.org/0009-0007-2322-2940)
- Leying Zhang (ORCID: https://orcid.org/0000-0002-5285-0088)
Institutions
- Zhengzhou Children's Hospital (CN)
- Henan Provincial Eye Hospital (CN)
Publication Details
- Journal
- Clinical ophthalmology
- Published
- 2025-12-01
- DOI
- https://doi.org/10.2147/opth.s556592
- Primary Topic
- Protease and Inhibitor Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Henan Province