Associated Papers
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.
Chelstowska S et al.
Biochemistry, 2017
Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle.
Sears AE et al.
Biochemistry, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Littink KW et al.
Ophthalmology, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Dev Borman A et al.
Investigative Ophthalmology & Visual Science, 2012
Lecithin retinol acyltransferase and its S175R mutant have a similar secondary structure content and maximum insertion pressure but different enzyme activities.
Bussières S et al.
Experimental Eye Research, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Membrane localization of the NlpC/P60 family protein EGL-26 correlates with regulation of vulval cell morphogenesis in Caenorhabditis elegans.
Estes KA et al.
Developmental Biology, 2007
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Sweeney MO et al.
Molecular Vision, 2007
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
Sénéchal A et al.
American Journal of Ophthalmology, 2006
Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver.
Batten ML et al.
The Journal of Biological Chemistry, 2004
Genetic defects in vitamin A metabolism of the retinal pigment epithelium.
Thompson DA et al.
Developments in Ophthalmology, 2003
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
Thompson DA et al.
Nature Genetics, 2001
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