"Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression."
McLean J. , Wion K. , Drayna D. , Fielding C. , Lawn R.
Nucleic Acids Res.14:9397-9406(1986) [PubMed] [Europe PMC] [Abstract]

"Cloning and expression of human lecithin-cholesterol acyltransferase cDNA."
McLean J. , Fielding C. , Drayna D. , Dieplinger H. , Baer B. , Kohr W. , Henzel W. , Lawn R.
Proc. Natl. Acad. Sci. U.S.A.83:2335-2339(1986) [PubMed] [Europe PMC] [Abstract]

Nickerson D.A. , Smith J.D. , Fullerton S.M. , Clark A.G. , Stengard J.H. , Salomaa V. , Boerwinkle E. , Sing C.F. , Weiss K.M.
Submitted (2003-09) to the EMBL/GenBank/DDBJ databases

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-08) to the EMBL/GenBank/DDBJ databases

"The sequence and analysis of duplication-rich human chromosome 16."
Martin J. , Han C. , Gordon L.A. , Terry A. , Prabhakar S. , She X. , Xie G. , Hellsten U. , Chan Y.M. , Altherr M. , Couronne O. , Aerts A. , Bajorek E. , Black S. , Blumer H. , Branscomb E. , Brown N.C. , Bruno W.J. , Buckingham J.M. , Callen D.F. , Campbell C.S. , Campbell M.L. , Campbell E.W. , Caoile C. , Challacombe J.F. , Chasteen L.A. , Chertkov O. , Chi H.C. , Christensen M. , Clark L.M. , Cohn J.D. , Denys M. , Detter J.C. , Dickson M. , Dimitrijevic-Bussod M. , Escobar J. , Fawcett J.J. , Flowers D. , Fotopulos D. , Glavina T. , Gomez M. , Gonzales E. , Goodstein D. , Goodwin L.A. , Grady D.L. , Grigoriev I. , Groza M. , Hammon N. , Hawkins T. , Haydu L. , Hildebrand C.E. , Huang W. , Israni S. , Jett J. , Jewett P.B. , Kadner K. , Kimball H. , Kobayashi A. , Krawczyk M.-C. , Leyba T. , Longmire J.L. , Lopez F. , Lou Y. , Lowry S. , Ludeman T. , Manohar C.F. , Mark G.A. , McMurray K.L. , Meincke L.J. , Morgan J. , Moyzis R.K. , Mundt M.O. , Munk A.C. , Nandkeshwar R.D. , Pitluck S. , Pollard M. , Predki P. , Parson-Quintana B. , Ramirez L. , Rash S. , Retterer J. , Ricke D.O. , Robinson D.L. , Rodriguez A. , Salamov A. , Saunders E.H. , Scott D. , Shough T. , Stallings R.L. , Stalvey M. , Sutherland R.D. , Tapia R. , Tesmer J.G. , Thayer N. , Thompson L.S. , Tice H. , Torney D.C. , Tran-Gyamfi M. , Tsai M. , Ulanovsky L.E. , Ustaszewska A. , Vo N. , White P.S. , Williams A.L. , Wills P.L. , Wu J.-R. , Wu K. , Yang J. , DeJong P. , Bruce D. , Doggett N.A. , Deaven L. , Schmutz J. , Grimwood J. , Richardson P. , Rokhsar D.S. , Eichler E.E. , Gilna P. , Lucas S.M. , Myers R.M. , Rubin E.M. , Pennacchio L.A. more...
Nature432:988-994(2004) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase."
Tata F. , Chaves M.E. , Markham A.F. , Scrace G.D. , Waterfield M.D. , McIntyre N. , Williamson R. , Humphries S.E.
Biochim. Biophys. Acta910:142-148(1987) [PubMed] [Europe PMC] [Abstract]

"The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease."
Rogne S. , Skretting G. , Larsen F. , Myklebost O. , Mevag B. , Carlson L.A. , Holmquist L. , Gjone E. , Prydz H.
Biochem. Biophys. Res. Commun.148:161-169(1987) [PubMed] [Europe PMC] [Abstract]

"Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme."
Yang C. , Manoogian D. , Pao Q. , Lee F. , Knapp R.D. , Gotto A.M. Jr. , Pownall H.J.
J. Biol. Chem.262:3086-3091(1987) [PubMed] [Europe PMC] [Abstract]

"Site-specific detection and structural characterization of the glycosylation of human plasma proteins lecithin:cholesterol acyltransferase and apolipoprotein D using HPLC/electrospray mass spectrometry and sequential glycosidase digestion."
Schindler P.A. , Settineri C.A. , Collet X. , Fielding C.J. , Burlingame A.L.
Protein Sci.4:791-803(1995) [PubMed] [Europe PMC] [Abstract]

"Comparative studies on the substrate specificity of lecithin:cholesterol acyltransferase towards the molecular species of phosphatidylcholine in the plasma of 14 vertebrates."
Subbaiah P.V. , Liu M.
J. Lipid Res.37:113-122(1996) [PubMed] [Europe PMC] [Abstract]

"Secretion of lecithin:cholesterol acyltransferase by brain neuroglial cell lines."
Collet X. , Francone O. , Besnard F. , Fielding C.J.
Biochem. Biophys. Res. Commun.258:73-76(1999) [PubMed] [Europe PMC] [Abstract]

"Binding affinity and reactivity of lecithin cholesterol acyltransferase with native lipoproteins."
Kosek A.B. , Durbin D. , Jonas A.
Biochem. Biophys. Res. Commun.258:548-551(1999) [PubMed] [Europe PMC] [Abstract]

"Formation of spherical, reconstituted high density lipoproteins containing both apolipoproteins A-I and A-II is mediated by lecithin:cholesterol acyltransferase."
Clay M.A. , Pyle D.H. , Rye K.A. , Barter P.J.
J. Biol. Chem.275:9019-9025(2000) [PubMed] [Europe PMC] [Abstract]

"Negative charge at amino acid 149 is the molecular determinant for substrate specificity of lecithin: cholesterol acyltransferase for phosphatidylcholine containing 20-carbon sn-2 fatty acyl chains."
Zhao Y. , Wang J. , Gebre A.K. , Chisholm J.W. , Parks J.S.
Biochemistry42:13941-13949(2003) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Relationship of endogenous hyperleptinemia to serum paraoxonase 1, cholesteryl ester transfer protein, and lecithin cholesterol acyltransferase in obese individuals."
Bajnok L. , Seres I. , Varga Z. , Jeges S. , Peti A. , Karanyi Z. , Juhasz A. , Csongradi E. , Mezosi E. , Nagy E.V. , Paragh G.
Metabolism56:1542-1549(2007) [PubMed] [Europe PMC] [Abstract]

"LCAT synthesized by primary astrocytes esterifies cholesterol on glia-derived lipoproteins."
Hirsch-Reinshagen V. , Donkin J. , Stukas S. , Chan J. , Wilkinson A. , Fan J. , Parks J.S. , Kuivenhoven J.A. , Lutjohann D. , Pritchard H. , Wellington C.L.
J. Lipid Res.50:885-893(2009) [PubMed] [Europe PMC] [Abstract]

"An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease."
Skretting G. , Prydz H.
Biochem. Biophys. Res. Commun.182:583-587(1992) [PubMed] [Europe PMC] [Abstract]

"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)."
Klein H.-G. , Lohse P. , Pritchard P.H. , Bojanovski D. , Schmidt H. , Brewer H.B. Jr.
J. Clin. Invest.89:499-506(1992) [PubMed] [Europe PMC] [Abstract]

"Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele."
Taramelli R. , Pontoglio M. , Candiani G. , Ottolenghi S. , Dieplinger H. , Catapano A. , Albers J. , Vergani C. , McLean J.
Hum. Genet.85:195-199(1990) [PubMed] [Europe PMC] [Abstract]

"Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency."
Gotoda T. , Yamada N. , Murase T. , Sakuma M. , Murayama N. , Shimano H. , Kozaki K. , Albers J.J. , Yazaki Y. , Akanuma Y.
Lancet338:778-781(1991) [PubMed] [Europe PMC] [Abstract]

"The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families."
Skretting G. , Blomhoff J.P. , Solheim J. , Prydz H.
FEBS Lett.309:307-310(1992) [PubMed] [Europe PMC] [Abstract]

"Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene."
Maeda E. , Naka Y. , Matozaki T. , Sakuma M. , Akanuma Y. , Yoshino G. , Kasuga M.
Biochem. Biophys. Res. Commun.178:460-466(1991) [PubMed] [Europe PMC] [Abstract]

"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."
Funke H. , von Eckardstein A. , Pritchard P.H. , Hornby A.E. , Wiebusch H. , Motti C. , Hayden M.R. , Dachet C. , Jacotot B. , Gerdes U. , Faergeman O. , Albers J.J. , Colleoni N. , Catapano A. , Frohlich J. , Assmann G.
J. Clin. Invest.91:677-683(1993) [PubMed] [Europe PMC] [Abstract]

"Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism."
Hill J.S. , O K. , Wang X. , Pritchard P.H.
Biochim. Biophys. Acta1181:321-323(1993) [PubMed] [Europe PMC] [Abstract]

"A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency."
Steyrer E. , Haubenwallner S. , Hoerl G. , Giessauf W. , Kostner G.M. , Zechner R.
Hum. Genet.96:105-109(1995) [PubMed] [Europe PMC] [Abstract]

"Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene."
Wiebusch H. , Cullen P. , Owen J.S. , Collins D. , Sharp P.S. , Funke H. , Assmann G.
Hum. Mol. Genet.4:143-145(1995) [PubMed] [Europe PMC] [Abstract]

"Two novel molecular defects in the LCAT gene are associated with fish eye disease."
Kuivenhoven J.A. , Stalenhoef A.F. , Hill J.S. , Demacker P.N. , Errami A. , Kastelein J.J. , Pritchard P.H.
Arterioscler. Thromb. Vasc. Biol.16:294-303(1996) [PubMed] [Europe PMC] [Abstract]

"Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene."
Owen J.S. , Wiebusch H. , Cullen P. , Watts G.F. , Lima V.L.M. , Funke H. , Assmann G.
Hum. Mutat.8:79-82(1996) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency."
Okubo M. , Aoyama Y. , Shio H. , Albers J.J. , Murase T.
Int. J. Clin. Lab. Res.26:250-254(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea."
Blanco-Vaca F. , Qu S.J. , Fiol C. , Fan H.Z. , Pao Q. , Marzal-Casacuberta A. , Albers J.J. , Hurtado I. , Gracia V. , Pinto X. , Marti T. , Pownall H.J.
Arterioscler. Thromb. Vasc. Biol.17:1382-1391(1997) [PubMed] [Europe PMC] [Abstract]

"Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband."
Argyropoulos G. , Jenkins A. , Klein R.L. , Lyons T. , Wagenhorst B. , St Armand J. , Marcovina S.M. , Albers J.J. , Pritchard P.H. , Garvey W.T.
J. Lipid Res.39:1870-1876(1998) [PubMed] [Europe PMC] [Abstract]

"Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations."
Sessa A. , Battini G. , Meroni M. , Daidone G. , Carnera I. , Brambilla P.L. , Vigano G. , Giordano F. , Pallotti F. , Torri Tarelli L. , Calabresi L. , Rolleri M. , Bertolini S.
Nephron88:268-272(2001) [PubMed] [Europe PMC] [Abstract]

"A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100."
Nanjee M.N. , Stocks J. , Cooke C.J. , Molhuizen H.O. , Marcovina S. , Crook D. , Kastelein J.P. , Miller N.E.
Atherosclerosis170:105-113(2003) [PubMed] [Europe PMC] [Abstract]

"Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
Morabia A. , Cayanis E. , Costanza M.C. , Ross B.M. , Flaherty M.S. , Alvin G.B. , Das K. , Gilliam T.C.
Hum. Mol. Genet.12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families."
Calabresi L. , Pisciotta L. , Costantin A. , Frigerio I. , Eberini I. , Alessandrini P. , Arca M. , Bon G.B. , Boscutti G. , Busnach G. , Frasca G. , Gesualdo L. , Gigante M. , Lupattelli G. , Montali A. , Pizzolitto S. , Rabbone I. , Rolleri M. , Ruotolo G. , Sampietro T. , Sessa A. , Vaudo G. , Cantafora A. , Veglia F. , Calandra S. , Bertolini S. , Franceschini G. more...
Arterioscler. Thromb. Vasc. Biol.25:1972-1978(2005) [PubMed] [Europe PMC] [Abstract]

"Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family."
Idzior-Walus B. , Sieradzki J. , Kostner G. , Malecki M.T. , Klupa T. , Wesolowska T. , Rostworowski W. , Hartwich J. , Walus M. , Kiec A.D. , Naruszewicz M.
Atherosclerosis185:413-420(2006) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease."
Hoerl G. , Kroisel P.M. , Wagner E. , Tiran B. , Petek E. , Steyrer E.
Atherosclerosis187:101-109(2006) [PubMed] [Europe PMC] [Abstract]

"LCAT deficiency: molecular and phenotypic characterization of an Italian family."
Gigante M. , Ranieri E. , Cerullo G. , Calabresi L. , Iolascon A. , Assmann G. , Morrone L. , Pisciotta L. , Schena F.P. , Gesualdo L.
J. Nephrol.19:375-381(2006) [PubMed] [Europe PMC] [Abstract]

"High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations."
Holleboom A.G. , Kuivenhoven J.A. , Peelman F. , Schimmel A.W. , Peter J. , Defesche J.C. , Kastelein J.J. , Hovingh G.K. , Stroes E.S. , Motazacker M.M.
Hum. Mutat.32:1290-1298(2011) [PubMed] [Europe PMC] [Abstract]