Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Following oxidation by cholesterol oxidase human erythrocyte oxysterols were analyzed as the corresponding hydroxy-delta 4-3-ketones by HPLC with effluent monitoring at 235 nm. Variable amounts of epimeric cholest-5-ene-3 beta,7-diols, 3 beta-hydroxycholest-5-en-7-one, cholest-5-ene-3 beta,19-diol, cholest-5-ene-3 beta,20-diol, cholest-5-ene-3 beta,25-diol and cholest-5-ene-3 beta,26-diol were detected in erythrocyte membranes of patients with sickle cell anemia or sickle cell trait. Only 3 beta-hydroxycholest-5-en-7-one was detected in erythrocyte membranes of healthy donors.
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PMID:High-performance liquid chromatographic analysis of human erythrocyte oxysterols as delta 4-3-ketone derivatives. 789 50

We describe a simple but sensitive fluorescence method to accurately detect the esterification activity of lecithin:cholesterol acyltransferase (LCAT). The new assay protocol employs a convenient mix, incubate, and measure scheme. This is possible by using the fluorescent sterol dehydroergosterol (DHE) in place of cholesterol as the LCAT substrate. The assay method is further enhanced by incorporation of an amphiphilic peptide in place of apolipoprotein A-I as the lipid emulsifier and LCAT activator. Specific fluorescence detection of DHE ester synthesis is achieved by employing cholesterol oxidase to selectively render unesterified DHE nonfluorescent. The assay accurately detects LCAT activity in buffer and in plasma that is depleted of apolipoprotein B lipoproteins by selective precipitation. Analysis of LCAT activity in plasmas from control subjects and sickle cell disease (SCD) patients confirms previous reports of reduced LCAT activity in SCD and demonstrates a strong correlation between plasma LCAT activity and LCAT content. The fluorescent assay combines the sensitivity of radiochemical assays with the simplicity of nonradiochemical assays to obtain accurate and robust measurement of LCAT esterification activity.
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PMID:A fluorescence method to detect and quantitate sterol esterification by lecithin:cholesterol acyltransferase. 2385 43