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Article

Impact of retinal disease-associated RPE65 mutations on retinoid isomerization.

Biochemistry - 16 Sept 2008

Bereta Grzegorz, Kiser Philip D, Golczak Marcin, Sun Wenyu, Heon Elise, Saperstein David A, Palczewski Krzysztof

Abstract excerpt

Pathogenic mutations in the RPE65 gene are associated with a spectrum of congenital blinding diseases in humans. We evaluated changes in the promoter region, coding regions, and exon/intron junctions of the RPE65 gene by direct sequencing of DNA from 36 patients affected with Leber's congenital amaurosis (LCA), 62 with autosomal recessive retinitis pigmentosa (arRP), and 21 with autosomal dominant/recessive...

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Identifiers

PMID: 18722466
DOI: 10.1021/bi800905v
PMCID: PMC2610467

Genes

RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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