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Article

Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.

Advances in experimental medicine and biology - 1 Jan 2023

Wu Wenjing, Takahashi Yusuke, Ma Xiang, Moiseyev Gennadiy, Ma Jian-Xing

Abstract excerpt

The retina pigmented epithelium 65 kDa protein (RPE65) is an essential enzyme in the visual cycle that regenerates the 11-cis-retinal chromophore obligatory for vision. Mutations in RPE65 are associated with blinding diseases. D477G (C.1430G > A) is the only known RPE65 variant to cause autosomal dominant retinitis pigmentosa (adRP). Previously, we reported that the heterozygous D477G knock-in (WT/KI) mice...

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PMID: 37440066
DOI: 10.1007/978-3-031-27681-1_61

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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.

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Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.PMID 37440066Read ↗

A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.Semantic proximity Read ↗

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Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

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Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in RPE65.Semantic proximity Read ↗

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