Disease on EC 2.3.1.135 - phosphatidylcholine-retinol O-acyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Blindness
Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis.
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis.
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Pathophysilogical mechanism and treatment strategies for leber congenital amaurosis.
Carcinoma
Reduced lecithin:retinol acyl transferase activity in cultured squamous cell carcinoma lines results in increased substrate-driven retinoic acid synthesis.
Carcinoma, Squamous Cell
Reduced lecithin:retinol acyl transferase activity in cultured squamous cell carcinoma lines results in increased substrate-driven retinoic acid synthesis.
Hypercholesterolemia
Asteroid hyalosis--current state of knowledge.
Hypertension
Asteroid hyalosis--current state of knowledge.
Leber Congenital Amaurosis
Asteroid hyalosis--current state of knowledge.
Chemical chaperone TUDCA preserves cone photoreceptors in a mouse model of Leber congenital amaurosis.
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis.
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Pathophysilogical mechanism and treatment strategies for leber congenital amaurosis.
Melanoma
Knockdown of lecithin retinol acyltransferase increases all-trans retinoic acid levels and restores retinoid sensitivity in malignant melanoma cells.
Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
Neoplasm Metastasis
Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
Neoplasms
Evolutionary history, structural features and biochemical diversity of the NlpC/P60 superfamily of enzymes.
Expression of the interleukin-4 receptor alpha in human conjunctival epithelial cells.
Platelet-derived growth factor receptor ? in hepatocellular carcinoma is a prognostic marker independent of underlying liver cirrhosis.
Reduced lecithin: retinol acyltransferase expression correlates with increased pathologic tumor stage in bladder cancer.
Nevus, Pigmented
Lecithin retinol acyltransferase as a potential prognostic marker for malignant melanoma.
Retinal Degeneration
Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium.
Palmitoylation stabilizes unliganded rod opsin.
Retinal Dystrophies
Cone opsin determines the time course of cone photoreceptor degeneration in Leber congenital amaurosis.
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
Pathophysilogical mechanism and treatment strategies for leber congenital amaurosis.
Retinitis Pigmentosa
A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.
Asteroid hyalosis--current state of knowledge.
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Urinary Bladder Neoplasms
Reduced lecithin: retinol acyltransferase expression correlates with increased pathologic tumor stage in bladder cancer.