Exon Skipping Therapy Restores Ciliary Function in <i>USH2A</i>-Related Retinal Degeneration
PUMCH-E13 effectively induces exon 13 skipping in USH2A with low toxicity. Additionally, PUMCH-E13 can promote the restoration of photoreceptor cilia structure in patient-derived retinal organoids, revealing its potential therapeutic mechanism.
Authors
- Wuyi Li (ORCID: https://orcid.org/0000-0001-5466-3932)
- Huixin Liu (ORCID: https://orcid.org/0000-0001-7073-4366)
- Ruifang Sui (ORCID: https://orcid.org/0000-0002-6659-0926)
- Yunyu Zhou
- Zixi Sun (ORCID: https://orcid.org/0000-0002-8238-2115)
- Yue Liu (ORCID: https://orcid.org/0000-0002-7136-1298)
- Yamei Li (ORCID: https://orcid.org/0000-0001-8511-1938)
- Xiaoxu Han (ORCID: https://orcid.org/0000-0003-1427-8428)
- Hui Li (ORCID: https://orcid.org/0000-0002-0339-0038)
- Xuan Zou (ORCID: https://orcid.org/0000-0002-5248-9480)
- Xing Wei (ORCID: https://orcid.org/0009-0002-1364-107X)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-09-19
- DOI
- https://doi.org/10.1167/iovs.66.12.46
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00