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Article

Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.

Biochemical and biophysical research communications - 22 Jan 2010

Nikolaeva Olga, Takahashi Yusuke, Moiseyev Gennadiy, Ma Jian-Xing

Abstract excerpt

RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments. Here we compared the impacts of two mutations in RPE65, E417Q identified in patients with Leber congenital amaurosis (LCA), and E417D on isomerohydrolase activity. Although both mutatio...

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Identifiers

PMID: 20043869
DOI: 10.1016/j.bbrc.2009.12.149
PMCID: PMC2812700

Genes

RPE65

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20043869-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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