RPE65 Is Present in Human Green/Red Cones and Promotes Photopigment Regeneration in an In Vitro Cone Cell Model
Open accessAbstract
RPE65 is an abundantly expressed protein within the retinal pigment epithelium (RPE) of the eye that is required for retinoid metabolism to support vision. Its genetic mutations are linked to the congenital disease Leber congenital amaurosis Type 2 (LCA2) characterized by the early onset of central vision loss. Current gene therapy trials have targeted restoration of functional RPE65 within the RPE of these patients with some success. Recent data show that RPE65 is also present within mouse cones to promote function. In this study, we evaluated the presence of RPE65 in human cones and investigated its potential mechanism for supporting cone function in the 661W cone cell line. We found that RPE65 was selectively expressed in human green/red cones but absent from blue cones and mediated ester hydrolysis for photopigment synthesis in vitro. These data suggest that cone RPE65 supports human diurnal vision, potentially enhancing our strategies for treating LCA2.
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Amounts of 11-cis, all-trans, and 13-cis RAL are significantly reduced in Atg5ΔRPE mice compared to littermate controls.
“The results, quantitated according to previously published protocol (Tang et al., 2011), show that the amounts of 11-cis, all-trans, and 13-cis RAL were significantly reduced in Atg5ΔRPE mice compared to littermate controls (Figure 7C).”
From Noncanonical autophagy promotes the visual cycle (2013) · cites this paper as Tang et al., 2011
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- Authors
- Tang, P. H., Buhusi, M. C., Ma, J.-X., & Crouch, R. K.
- Affiliations
- Medical University of South Carolina (US)
- University of Oklahoma Health Sciences Center (US)
- Venue
- The Journal of Neuroscience
- Publisher
- Society for Neuroscience
- Published
- 2011-12-14
- Volume
- 31
- Issue
- 50
- Pages
- 18618-18626
- ISSN
- 0270-6474 (ISSN-L)
- 1529-2401
- PMC
- PMC3297673
- OpenAlex
- W2168260507
- Cited by
- 45
- References
- 44
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 1 · 2018: 7 · 2017: 4 · 2016: 3 · 2015: 3 · 2014: 8 · 2013: 2 · 2012: 4
- FWCI
- 1.82
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuroscience (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Research to Prevent Blindness
- University of South Carolina
- National Institutes of Health (1c06rr015455-01a1)
- National Eye Institute (R21EY020661, R01 EY04939, R01EY012231, R01EY004939)
- National Center for Research Resources (C06 RR-015455)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- RPE65, retinal pigment epithelium, cone photoreceptors, vitamin A metabolism, ester hydrolysis, diurnal vision, gene therapy
- MeSH terms
- Retinoid Isomerohydrolase, Aged, 80 and over, Carrier Proteins, Cell Line, Child, Eye Proteins, Female, Humans, Male, Pigment Epithelium of Eye, Regeneration, Retinal Cone Photoreceptor Cells, cis-trans-Isomerases, Young Adult, Leber Congenital Amaurosis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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