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- W2505928851 abstract "Studies in cultured fibroblasts from patients with the clinical syndrome of homozygous familial hypercholesterolemia have disclosed two different mutations affecting the functions of the low density lipo- protein receptor. One of these mutations, described previ- ously, results in a functionless receptor that does not bind low density lipoproteins. In the cells of six patients who appear to be homozygous for this mutant allele, i.e., receptor-negative homozygotes, low density lipoproteins neither suppress hydroxymethylglutaryl-CoA reductase (NADPH) (mevalonate:NADP+ oxidoreductase (CoA-acy- lating) EC 1.1.1.34) activity nor stimulate cellular choles- terol esterification, even when examined in the presence of concentrations of lipoprotein 500 times higher than those required to produce maximal biologic effects in normal cells. The second type of mutation, described herein, results in a receptor that has a reduced but not absent function. Fibroblasts from three subjects who possess this mutation, i.e., receptor-defective homozygotes, show partial suppression of the same enzyme activity and a detectable increase in cholesterol esterification capacity in the presence of high levels of low density lipoproteins. It was calculated that their degree of function could be achieved if they possessed only about 10% of the normal binding of low density lipoprotein. This level of binding was too low to be reliably detected by the '5I-labeled low density lipoprotein binding assay. The finding of a second class of mutant cells in which a defect in low density lipoprotein binding is associated with simultaneous de- fects in both suppression of hydroxymethylglutaryl-CoA reductase activity and stimulation of cholesterol ester formation provides further evidence for the coordinate control of these two processes by the low density lipo- protein receptor." @default.
- W2505928851 created "2016-08-23" @default.
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- W2505928851 date "2016-01-01" @default.
- W2505928851 modified "2023-09-24" @default.
- W2505928851 title "Genetic Heterogeneity in Familial Hyperc Different Mutations Affecting Functions o (cholesterol metabolism/atherosclerosis/hyperlipidemia/l" @default.
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- W2505928851 hasPublicationYear "2016" @default.
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