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Article

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

The American journal of pathology - 1 Mar 2017

Shin Younghwa, Moiseyev Gennadiy, Chakraborty Dibyendu, Ma Jian-Xing

Abstract excerpt

RPE65 is an indispensable component of the retinoid visual cycle in vertebrates, through which the visual chromophore 11-cis-retinal (11-cis-RAL) is generated to maintain normal vision. Various blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65. Herein, we investigated D477G missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28041994
DOI: 10.1016/j.ajpath.2016.11.004
PMCID: PMC5389371

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice.PMID 28041994Read ↗

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

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

<i>RPE65</i> knockout <i>Xenopus laevis</i> have a compromised but detectable electroretinogram and altered visual responses, without retinal degeneration or altered melanophore dispersionSemantic proximity Read ↗

Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.Semantic proximity Read ↗

R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinalSemantic proximity Read ↗

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.Semantic proximity Read ↗

Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.Semantic proximity Read ↗

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.Semantic proximity Read ↗

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.Semantic proximity Read ↗

Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degenerationSemantic proximity Read ↗

RPE Visual Cycle and Biochemical Phenotypes of Mutant Mouse Models.Semantic proximity Read ↗

Human cone photoreceptor dependence on RPE65 isomeraseSemantic proximity Read ↗

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