Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.
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T. Lyons | W. Garvey | R. Klein | A. Jenkins | S. Marcovina | J. Albers | G. Argyropoulos | P. Pritchard | B. Wagenhorst | J. St Armand
[1] L. Carlson,et al. Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease. , 2009, Acta medica Scandinavica.
[2] A. Jonas. Lecithin cholesterol acyltransferase. , 2000, Biochimica et biophysica acta.
[3] J. Tavernier,et al. A proposed architecture for lecithin cholesterol acyl transferase (LCAT): Identification of the catalytic triad and molecular modeling , 1998, Protein science : a publication of the Protein Society.
[4] M. Katan. Effect of low-fat diets on plasma high-density lipoprotein concentrations. , 1998, The American journal of clinical nutrition.
[5] P. Duchateau,et al. Prebeta-1 HDL in plasma of normolipidemic individuals: influences of plasma lipoproteins, age, and gender. , 1998, Journal of lipid research.
[6] S. Keteyian,et al. Effects of acute exercise on high density lipoprotein cholesterol and high density lipoprotein subfractions in moderately trained females. , 1998, British journal of sports medicine.
[7] A. Jonas,et al. Mutagenesis of highly conserved histidines in lecithincholesterol acyltransferase: identification of an essential histidine (His 377). , 1998, Biochemical and biophysical research communications.
[8] R. Brasseur,et al. Structural and functional properties of the 154-171 wild-type and variant peptides of human lecithin-cholesterol acyltransferase. , 1997, European journal of biochemistry.
[9] M. Guerin,et al. Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop). , 1997, Atherosclerosis.
[10] H. Mabuchi,et al. Catalytically inactive lecithin: cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency. , 1997, Journal of lipid research.
[11] G. Assmann,et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. , 1997, Journal of lipid research.
[12] G. Assmann,et al. An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease). , 1996, The Journal of clinical investigation.
[13] G. Assmann,et al. A unique genetic and biochemical presentation of fish-eye disease. , 1995, The Journal of clinical investigation.
[14] R. Klein,et al. Isolation, Characterization, and Metabolism of the Glycated and Nonglycated Subfractions of Low-Density Lipoproteins Isolated from Type I Diabetic Patients and Nondiabetic Subjects , 1995, Diabetes.
[15] Victor V. Solovyev,et al. Predicting alpha-helix and beta-strand segments of globular proteins , 1994, Comput. Appl. Biosci..
[16] R. Zechner,et al. The role of lecithin: cholesterol acyltransferase for lipoprotein (a) assembly. Structural integrity of low density lipoproteins is a prerequisite for Lp(a) formation in human plasma. , 1994, The Journal of clinical investigation.
[17] R. Mcleod,et al. Lecithin:cholesterol acyltransferase: role of N-linked glycosylation in enzyme function. , 1993, The Biochemical journal.
[18] H. Klein,et al. Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis. , 1993, The Journal of clinical investigation.
[19] A. von Eckardstein,et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. , 1993, The Journal of clinical investigation.
[20] H. Klein,et al. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met). , 1992, The Journal of clinical investigation.
[21] H. Prydz,et al. An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. , 1992, Biochemical and biophysical research communications.
[22] A. Jonas. Lecithin-cholesterol acyltransferase in the metabolism of high-density lipoproteins. , 1991, Biochimica et biophysica acta.
[23] A. von Eckardstein,et al. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[24] L. Pinna. Casein kinase 2: an 'eminence grise' in cellular regulation? , 1990, Biochimica et biophysica acta.
[25] R. Grand,et al. Acylation of viral and eukaryotic proteins. , 1989, The Biochemical journal.
[26] A. Gotto,et al. Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme. , 1987, The Journal of biological chemistry.
[27] C. Fielding,et al. Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression. , 1986, Nucleic acids research.
[28] W. Kohr,et al. Cloning and expression of human lecithin-cholesterol acyltransferase cDNA. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[29] Y. Nishizuka,et al. Studies on the phosphorylation of myelin basic protein by protein kinase C and adenosine 3':5'-monophosphate-dependent protein kinase. , 1985, The Journal of biological chemistry.
[30] P. Wahl,et al. Population-based reference values for lecithin-cholesterol acyltransferase (LCAT). , 1982, Atherosclerosis.
[31] B. Philipson,et al. Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia Clinical and laboratory studies in two afflicted families , 1982, European journal of clinical investigation.
[32] T. Cooper. Department of Health, Education, and Welfare. , 1976, Military medicine.
[33] R. Havel,et al. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. , 1955, The Journal of clinical investigation.
[34] G. Assmann,et al. Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene. , 1995, Human molecular genetics.
[35] A. Scanu. Structural and functional polymorphism of lipoprotein(a): biological and clinical implications. , 1995, Clinical chemistry.
[36] J. Frohlich,et al. Cholesterol esterification rates in very low density lipoprotein- and low density lipoprotein-depleted plasma. Relation to high density lipoprotein subspecies, sex, hyperlipidemia, and coronary artery disease. , 1991, Arteriosclerosis and thrombosis : a journal of vascular biology.
[37] Charles R.scriver,et al. The Metabolic basis of inherited disease , 1989 .
[38] J. Frohlich,et al. Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. , 1988, Metabolism: clinical and experimental.
[39] J. Albers,et al. Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase. , 1981, The Journal of clinical investigation.