Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease
CLN3Δ7-8/Δ7-8 mutation (which affects ≤85% of patients) affects both RPE and POS and leads to photoreceptor cell loss in CLN3 disease. Furthermore, both primary RPE dysfunction and mutant POS independently contribute to impaired POS phagocytosis in CLN3 disease.
Authors
- Anthony L. Cook (ORCID: https://orcid.org/0000-0003-1770-7910)
- Jill M. Weimer (ORCID: https://orcid.org/0000-0003-2504-4942)
- Jana Talbot (ORCID: https://orcid.org/0000-0003-2863-4139)
- Alex William Hewitt (ORCID: https://orcid.org/0000-0002-5123-5999)
- Sonal Dalvi
- Vicki J. Swier (ORCID: https://orcid.org/0000-0001-7509-9920)
- Ruchira Singh (ORCID: https://orcid.org/0000-0002-3821-1538)
- Clarissa D. Booth
- Sueanne Chear
- Jimin Han (ORCID: https://orcid.org/0000-0001-6911-7870)
- Cheyenne Reuben-Thomas
Institutions
- University of Tasmania (AU)
- University of South Dakota (US)
- Sanford Research (US)
- University of Rochester (US)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1167/iovs.65.13.23
- Citations
- 5
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.63
Funders
- Research to Prevent Blindness
- Batten Disease Support and Research Association
- University of Rochester