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Article

Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E.

Proceedings of the National Academy of Sciences of the United States of America - 10 Aug 2004

Kim So Ra, Fishkin Nathan, Kong Jian, Nakanishi Koji, Allikmets Rando, Sparrow Janet R

Abstract excerpt

There is a growing body of evidence that the nondegradable fluorophores that accumulate as the lipofuscin of retinal pigment epithelium (RPE) are involved in mechanisms leading to the degeneration of RPE in macular degeneration. Most of the constituents of RPE lipofuscin are inadvertent products of the retinoid visual cycle, the enzymatic pathway by which the 11-cis-retinal chromophore of rhodopsin is generated....

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Source

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Identifiers

PMID: 15277666
DOI: 10.1073/pnas.0403499101
PMCID: PMC511036

Genes

RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E.PMID 15277666Read ↗

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Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases.Semantic proximity Read ↗

A2E-associated cell death and inflammation in retinal pigmented epithelial cells from human induced pluripotent stem cellsSemantic proximity Read ↗

Fundus Autofluorescence in the<i>Abca4<sup>−/−</sup></i>Mouse Model of Stargardt Disease—Correlation With Accumulation of A2E, Retinal Function, and HistologySemantic proximity Read ↗

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Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.Semantic proximity Read ↗

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