Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop).

[1]  Philipson Bt.  Fish-eye disease , 2020, Definitions.

[2]  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.

[3]  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.

[4]  J. Kastelein,et al.  Two novel molecular defects in the LCAT gene are associated with fish eye disease. , 1996, Arteriosclerosis, thrombosis, and vascular biology.

[5]  G. Assmann,et al.  A unique genetic and biochemical presentation of fish-eye disease. , 1995, The Journal of clinical investigation.

[6]  T. Yanase,et al.  Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser). , 1995, Journal of lipid research.

[7]  S. Qu,et al.  In vitro expression of natural mutants of human lecithin:cholesterol acyltransferase. , 1995, Journal of lipid research.

[8]  K. Zeller,et al.  Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA. , 1995, Journal of lipid research.

[9]  H. Klein,et al.  In Vitro Expression of Structural Defects in the Lecithin-Cholesterol Acyltransferase Gene (*) , 1995, The Journal of Biological Chemistry.

[10]  H. Gylling,et al.  Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency. , 1995, Arteriosclerosis, thrombosis, and vascular biology.

[11]  W. C. Breckenridge,et al.  Characterization of monoclonal antibodies to apolipoprotein (a) and development of a chemiluminescent assay for phenotyping apolipoprotein (a) isomorphs. , 1994, Journal of immunological methods.

[12]  M. Guerin,et al.  Familial lecithin:cholesterol acyltransferase deficiency: further resolution of lipoprotein particle heterogeneity in the low density interval. , 1993, Atherosclerosis.

[13]  S. Qu,et al.  Effects of site-directed mutagenesis on the N-glycosylation sites of human lecithin:cholesterol acyltransferase. , 1993, Biochemistry.

[14]  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.

[15]  H. Wiebusch,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.

[16]  H. Prydz,et al.  The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families , 1992, FEBS letters.

[17]  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.

[18]  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.

[19]  H. Bujo,et al.  Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease. , 1991, Biochemical and biophysical research communications.

[20]  C. Fielding,et al.  Structure-function relationships in human lecithin:cholesterol acyltransferase. Site-directed mutagenesis at serine residues 181 and 216. , 1991, Biochemistry.

[21]  Y. Yazaki,et al.  Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency , 1991, The Lancet.

[22]  M. Kasuga,et al.  Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. , 1991, Biochemical and biophysical research communications.

[23]  T. Sekiya,et al.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[24]  G. Luc,et al.  Further resolution of the low density lipoprotein spectrum in normal human plasma: physicochemical characteristics of discrete subspecies separated by density gradient ultracentrifugation. , 1988, Journal of lipid research.

[25]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.

[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]  M. Jauhiainen,et al.  Human plasma lecithin-cholesterol acyltransferase. An elucidation of the catalytic mechanism. , 1986, The Journal of biological chemistry.

[29]  J. Albers,et al.  Characterization of proteoliposomes containing apoprotein A-I: a new substrate for the measurement of lecithin: cholesterol acyltransferase activity. , 1982, Journal of lipid research.

[30]  C. Fielding,et al.  Cholesterol transport between cells and body fluids. Role of plasma lipoproteins and the plasma cholesterol esterification system. , 1982, The Medical clinics of North America.

[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]  B. Olaisen,et al.  Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway. , 1981, Acta medica Scandinavica.

[33]  C. Fielding,et al.  Human plasma lecithin-cholesterol acyltransferase. Characterization of cofactor-dependent phospholipase activity. , 1978, The Journal of biological chemistry.

[34]  F. Sanger,et al.  DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[35]  J. Blomhoff,et al.  Possible association between an abnormal low density lipoprotein and nephropathy in lecithin: cholesterol acyltransferase deficiency. , 1974, Clinica chimica acta; international journal of clinical chemistry.

[36]  C. Fielding,et al.  A protein cofactor of lecithin:cholesterol acyltransferase. , 1972, Biochemical and biophysical research communications.

[37]  K. Norum,et al.  Determination of lecithin: cholesterol acyltransfer in human blood plasma. , 1971, Scandinavian journal of clinical and laboratory investigation.

[38]  J. Glomset.  The mechanism of the plasma cholesterol esterification reaction: plasma fatty acid transferase. , 1962, Biochimica et biophysica acta.

[39]  Oliver H. Lowry,et al.  Protein measurement with the Folin phenol reagent. , 1951, The Journal of biological chemistry.

[40]  G. Assmann,et al.  A new molecular defect in the lecithin: cholesterol acyltransferase (LCAT) gene associated with fish eye disease. , 1996, Journal of lipid research.

[41]  護山 健悟.  Two novel point mutations in the lecithin : Cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency : LCAT (G[873] deletion) and LCAT (Gly[344]→Ser) , 1995 .

[42]  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.

[43]  D. Rader,et al.  Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn). , 1993, Journal of lipid research.

[44]  A. Lacko,et al.  Isolation, characterization, and assay of lecithin-cholesterol acyltransferase. , 1986, Methods in enzymology.

[45]  J. Albers,et al.  Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase. , 1981, The Journal of clinical investigation.

[46]  E. Gong,et al.  Plasma lipoproteins in familial lecithin: cholesterol acyltransferase deficiency: effects of dietary manipulation. , 1975, Scandinavian journal of clinical and laboratory investigation. Supplementum.

[47]  T. Forte,et al.  The ultrastructure of plasma lipoproteins in lecithin:cholesterol acyltransferase deficiency. , 1974, Scandinavian journal of clinical and laboratory investigation. Supplementum.