2015
DOI: 10.1016/j.gene.2015.04.061
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Functional characterization of two single nucleotide polymorphisms of acyl-coenzyme A:cholesterol acyltransferase 2

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Cited by 1 publication
(1 citation statement)
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“…showed that, in humans, three ACAT2 polymorphisms, 41A>G (Glu>Gly), 734C>T (Thr>Ile), and IVS4‐57_58 ins48 bp (D/I), associate with plasma lipid levels and coronary artery disease (CAD) susceptibility, but that their effects were not consistent across genders and ethnic groups. In a further study, the enzymatic activity of mutant Glu(14)Gly was found approximately two times higher than the wild‐type activity and was associated to plasma lipid levels and CAD risk . ACAT2 expression is restricted to the small intestine and liver, and its deficiency reduces cholesterol absorption rendering mice resistant to diet‐induced hypercholesterolemia, gallstone formation, and atherosclerosis …”
Section: Fatmentioning
confidence: 89%
“…showed that, in humans, three ACAT2 polymorphisms, 41A>G (Glu>Gly), 734C>T (Thr>Ile), and IVS4‐57_58 ins48 bp (D/I), associate with plasma lipid levels and coronary artery disease (CAD) susceptibility, but that their effects were not consistent across genders and ethnic groups. In a further study, the enzymatic activity of mutant Glu(14)Gly was found approximately two times higher than the wild‐type activity and was associated to plasma lipid levels and CAD risk . ACAT2 expression is restricted to the small intestine and liver, and its deficiency reduces cholesterol absorption rendering mice resistant to diet‐induced hypercholesterolemia, gallstone formation, and atherosclerosis …”
Section: Fatmentioning
confidence: 89%