« Previous
Next »
Atherosclerosis
Volume 170, Issue 1
, Pages 105-113
, September 2003
A novel LCAT mutation (Phe382→Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100
References
- . Lecithin cholesterol acyltransferase. Biochim. Biophys. Acta. 2000;1529:245–256
- . Molecular physiology of reverse cholesterol transport. J. Lipid Res. 1995;36:211–228
- . The molecular pathology of lecithin: cholesterol acyltransferase (LCAT) deficiency syndromes. J. Lipid Res. 1997;38:191–205
- . Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230Arg mutation (LCATFin) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels. Arterioscler. Thromb. Vasc. Biol. 1997;18:591–598
- . The role of lecithin: cholesterol acyltransferase for lipoprotein (a) assembly. J. Clin. Invest. 1994;94:2330–2340
- . Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis. 1993;104:1–18
- . Human lecithin-cholesterol acyltransferase gene-complete gene sequence and sites of expression. Nucleic Acids Res. 1986;14:9397–9406
- . A common lecithin:cholesterol acyltransferase gene variant (ser208→thr). Atherosclerosis. 2000;149:219–220
- . Using mutagenic polymerase chain reaction primers to detect carriers of familial defective apolipoprotein B-100. Clin. Chem. 1991;37:1762–1766
- . Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha-I. J. Lipid Res. 1990;31:545–548
- . Sequential microenzymatic assay of cholesterol, triglycerides, and phospholipids in a single aliquot. Clin. Chem. 1996;42:915–926
- . Estimation of the concentration of low-density lipoprotein cholesterol in plasma without the use of the preparative ultracentrifuge. Clin. Chem. 1972;18:499–502
- . Acute effects of intravenous infusion of apoA1/phosphatidylcholine discs on plasma lipoproteins in humans. Arterioscler. Thromb. Vasc. Biol. 1999;19:979–989
- . A new enzyme-linked immunosorbent assay with two monoclonal antibodies to specific epitopes measures human lecithin-cholesterol acyltransferase. J. Lipid Res. 2002;43:325–334
- . Isolation, characterisation, and assay of lecithin: cholesterol acyltransferase. Methods Enzymol. 1986;129:763–783
- . Effect of the number of apo(a) kringle 4 domains on the immunochemical measurements of Lp(a). Clin. Chem. 1995;41:246–255
- . Differences in Lp(a) concentrations and apo(a) polymorphs between black and white Americans. J. Lipid Res. 1996;37:2569–2585
- . Identification of 34 apolipoprotein(a) isoforms: differential expression of apolipoprotein alleles between American blacks and whites. Biochem. Biophys. Res. Commun. 1993;191:1192–1196
- . An investigation of the role of lecithin:cholesterol acyltransferase and triglyceride-rich lipoproteins in the metabolism of prebeta high density lipoproteins. Atherosclerosis. 1991;89:35–48
- . Genetic and phenotypic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficient-six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J. Clin. Invest. 1993;91:677–683
-
.
Joint British recommendations on prevention of coronary heart disease in clinical practice.
Heart. 1998;80(Suppl. 2):S1–S29
- . Non-cholesterol sterols, absorption and synthesis of cholesterol and apolipoprotein A-I kinetics in a Finnish lecithin-cholesterol acyltransferase deficient family. Atherosclerosis. 1992;95:25–33
- . Overexpression of human lecithin-cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice. J. Biol. Chem. 1995;270:12269–12275
- . Lecithin:cholesterol acyltransferase (LCAT) knockout mice: a new animal model for human LCAT-deficiency. Atherosclerosis. 1997;134:372–373
- . Familial lecithin:cholesterol acyltransferase deficiency-further resolution of lipoprotein particle heterogeneity in the low-density interval. Atherosclerosis. 1993;104:195–212
- . A proposed architecture for lecithin cholesterol acyltransferase (LCAT): Identification of the catalytic triad and molecular modeling. Protein Sci. 1998;7:587–599
- . Effects of natural mutations in lecithin:cholesterol acyltransferase on the enzyme structure and activity. J. Lipid Res. 1999;40:59–69
- . In-vitro expression of natural mutants of human lecithin:cholesterol acyltransferase. J. Lipid Res. 1995;36:967–974
- . Relationship between structure and biochemical phenotype of lecithin:cholesterol acyltransferase (LCAT) mutants causing fish-eye disease. J. Lipid Res. 2000;41:752–761
- . Homozygous familial defective apolipoprotein B-100-enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. Arterioscler. Thromb. Vasc. Biol. 1997;17:348–353
- . Lp(a) glycoprotein phenotypes: inheritance and relation to Lp(a) lipoprotein concentration in plasma. J. Clin. Invest. 1987;80:458–465
PII: S0021-9150(03)00241-7
doi: 10.1016/S0021-9150(03)00241-7
© 2003 Elsevier Ireland Ltd. All rights reserved.
« Previous
Next »
Atherosclerosis
Volume 170, Issue 1
, Pages 105-113
, September 2003
