<i>Ubap1l</i> Knockout Mice Model Recapitulates Retinal Degeneration Phenotype Observed in Patients and Exhibits Irregular Photoreceptor Morphology
For the first time, biallelic pathogenic variants in UBAP1L were reported to explain the genetic defect among East Asian families with RP. The expression profile and precise localization of UBAP1L were demonstrated. A Ubap1l knockout mouse model replicating key hallmarks of IRD was established. These findings provide valuable insights into the essential role of UBAP1L in maintaining photoreceptor function and offer potential avenues for therapeutic development targeting IRD.
Authors
- Lingyi Liang
- Wenmin Sun (ORCID: https://orcid.org/0000-0003-2699-6662)
- Jiamin Ouyang
- Qingjiong Zhang (ORCID: https://orcid.org/0000-0001-7508-848X)
- Yi Jiang (ORCID: https://orcid.org/0000-0002-6802-5189)
- Shiqiang Li (ORCID: https://orcid.org/0009-0009-1076-282X)
- Yuxi Zheng
- Shuhan Zhang (ORCID: https://orcid.org/0000-0002-0589-765X)
- Yingwei Wang (ORCID: https://orcid.org/0000-0002-6764-4367)
- Xueshan Xiao
- Yi Zhen (ORCID: https://orcid.org/0000-0001-8677-5082)
- Dongwei Guo
Institutions
- Sun Yat-sen University (CN)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-12-11
- DOI
- https://doi.org/10.1167/iovs.66.15.35
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00