Lecithin-Retinol-Acyltransferase

Xue L et al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.

Maeda T et al. (2009) Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

Thompson DA et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

Ruiz A et al. (1999) Molecular and biochemical characterization of lecithin retinol acyltransferase.

Ruiz A et al. (2001) Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.

NCBI article

OMIM.ORG article

Orphanet article

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