Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.

Investigative ophthalmology & visual science - 1 Jan 2001

Ruiz A, Kuehn M H, Andorf J L, Stone E, Hageman G S, Bok D

Abstract excerpt

PURPOSE: To determine the structure of the human lecithin retinol acyltransferase (LRAT) gene, map its chromosomal localization, and screen for mutations in humans with various hereditary retinal degenerations. METHODS: Using DNA probes specific for LRAT, a bacterial artificial chromosome (BAC) clone containing the LRAT gene was isolated, subcloned into DNA fragments and relevant subclones characterized by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acyltransferases
Share to Blotting, Southern

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Probes

Share to Eye Proteins

Share to In Situ Hybridization, Fluorescence

Share to Pigment Epithelium of Eye

Share to Protein Folding

Share to Retinal Degeneration

Source

Identifiers

PMID: 11133845

Genes

LRAT
LCAT
RPE

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.PMID 11133845Read ↗

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.Semantic proximity Read ↗

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.Semantic proximity Read ↗

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.Semantic proximity Read ↗

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.Semantic proximity Read ↗

The Lrat−/− Rat: CRISPR/Cas9 Construction and Phenotyping of a New Animal Model for Retinitis PigmentosaSemantic proximity Read ↗

Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver.Semantic proximity Read ↗

Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review.Semantic proximity Read ↗

FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase.Semantic proximity Read ↗

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity.Semantic proximity Read ↗

[Molecular defects in familial LCAT deficiency].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.