Sequence of LCAT_HUMAN

phosphatidylcholine-sterol O-acyltransferase

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Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.

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818224

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Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.

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The sequence and analysis of duplication-rich human chromosome 16.

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818229

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

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818230

Tata F.,Chaves M.E.,Markham A.F.,Scrace G.D.,Waterfield M.D.,McIntyre N.,Williamson R.,Humphries S.E.

The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase.

Biochim. Biophys. Acta

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1987

818231

Rogne S.,Skretting G.,Larsen F.,Myklebost O.,Mevag B.,Carlson L.A.,Holmquist L.,Gjone E.,Prydz H.

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.

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1987

818232

Yang C.,Manoogian D.,Pao Q.,Lee F.,Knapp R.D.,Gotto A.M. Jr.,Pownall H.J.

Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme.

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1987

818233

Liu M.,Subbaiah P.V.

Hydrolysis and transesterification of platelet-activating factor by lecithin-cholesterol acyltransferase.

Proc. Natl. Acad. Sci. U.S.A.

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1994

818234

Schindler P.A.,Settineri C.A.,Collet X.,Fielding C.J.,Burlingame A.L.

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.

Protein Sci.

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791-803

1995

818235

Subbaiah P.V.,Liu M.

Comparative studies on the substrate specificity of lecithin:cholesterol acyltransferase towards the molecular species of phosphatidylcholine in the plasma of 14 vertebrates.

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1996

818236

Collet X.,Francone O.,Besnard F.,Fielding C.J.

Secretion of lecithin:cholesterol acyltransferase by brain neuroglial cell lines.

Biochem. Biophys. Res. Commun.

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1999

818237

Kosek A.B.,Durbin D.,Jonas A.

Binding affinity and reactivity of lecithin cholesterol acyltransferase with native lipoproteins.

Biochem. Biophys. Res. Commun.

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548-551

1999

818238

Clay M.A.,Pyle D.H.,Rye K.A.,Barter P.J.

Formation of spherical, reconstituted high density lipoproteins containing both apolipoproteins A-I and A-II is mediated by lecithin:cholesterol acyltransferase.

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2000

818239

Aoki J.,Taira A.,Takanezawa Y.,Kishi Y.,Hama K.,Kishimoto T.,Mizuno K.,Saku K.,Taguchi R.,Arai H.

Serum lysophosphatidic acid is produced through diverse phospholipase pathways.

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2002

818240

Zhao Y.,Wang J.,Gebre A.K.,Chisholm J.W.,Parks J.S.

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.

Biochemistry

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2003

818241

Liu T.,Qian W.-J.,Gritsenko M.A.,Camp D.G. II,Monroe M.E.,Moore R.J.,Smith R.D.

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

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818242

Bajnok L.,Seres I.,Varga Z.,Jeges S.,Peti A.,Karanyi Z.,Juhasz A.,Csongradi E.,Mezosi E.,Nagy E.V.,Paragh G.

Relationship of endogenous hyperleptinemia to serum paraoxonase 1, cholesteryl ester transfer protein, and lecithin cholesterol acyltransferase in obese individuals.

Metabolism

56

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2007

818243

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.

LCAT synthesized by primary astrocytes esterifies cholesterol on glia-derived lipoproteins.

J. Lipid Res.

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885-893

2009

818244

La Marca V.,Spagnuolo M.S.,Cigliano L.,Marasco D.,Abrescia P.

The enzyme lecithin-cholesterol acyltransferase esterifies cerebrosterol and limits the toxic effect of this oxysterol on SH-SY5Y cells.

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818245

Piper D.E.,Romanow W.G.,Gunawardane R.N.,Fordstrom P.,Masterman S.,Pan O.,Thibault S.T.,Zhang R.,Meininger D.,Schwarz M.,Wang Z.,King C.,Zhou M.,Walker N.P.

The high resolution crystal structure of human LCAT.

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1711-1719

2015

818246

Glukhova A.,Hinkovska-Galcheva V.,Kelly R.,Abe A.,Shayman J.A.,Tesmer J.J.

Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.

Nat. Commun.

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2015

818247

Skretting G.,Prydz H.

An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

Biochem. Biophys. Res. Commun.

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583-587

1992

818248

Klein H.-G.,Lohse P.,Pritchard P.H.,Bojanovski D.,Schmidt H.,Brewer H.B. Jr.

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).

J. Clin. Invest.

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499-506

1992

818249

Taramelli R.,Pontoglio M.,Candiani G.,Ottolenghi S.,Dieplinger H.,Catapano A.,Albers J.,Vergani C.,McLean J.

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

Hum. Genet.

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195-199

1990

818250

Gotoda T.,Yamada N.,Murase T.,Sakuma M.,Murayama N.,Shimano H.,Kozaki K.,Albers J.J.,Yazaki Y.,Akanuma Y.

Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

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1991

818251

Skretting G.,Blomhoff J.P.,Solheim J.,Prydz H.

The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

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1992

818252

Maeda E.,Naka Y.,Matozaki T.,Sakuma M.,Akanuma Y.,Yoshino G.,Kasuga M.

Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.

Biochem. Biophys. Res. Commun.

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1991

818253

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.

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.

J. Clin. Invest.

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677-683

1993

818254

Hill J.S.,O K.,Wang X.,Pritchard P.H.

Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.

Biochim. Biophys. Acta

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321-323

1993

818255

Steyrer E.,Haubenwallner S.,Hoerl G.,Giessauf W.,Kostner G.M.,Zechner R.

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.

Hum. Genet.

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105-109

1995

818256

Wiebusch H.,Cullen P.,Owen J.S.,Collins D.,Sharp P.S.,Funke H.,Assmann G.

Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

Hum. Mol. Genet.

4

143-145

1995

818257

Kuivenhoven J.A.,Stalenhoef A.F.,Hill J.S.,Demacker P.N.,Errami A.,Kastelein J.J.,Pritchard P.H.

Two novel molecular defects in the LCAT gene are associated with fish eye disease.

Arterioscler. Thromb. Vasc. Biol.

16

294-303

1996

818258

Owen J.S.,Wiebusch H.,Cullen P.,Watts G.F.,Lima V.L.M.,Funke H.,Assmann G.

Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.

Hum. Mutat.

8

79-82

1996

818259

Okubo M.,Aoyama Y.,Shio H.,Albers J.J.,Murase T.

A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.

Int. J. Clin. Lab. Res.

26

250-254

1996

818260

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.

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.

Arterioscler. Thromb. Vasc. Biol.

17

1382-1391

1997

818261

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.

Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.

J. Lipid Res.

39

1870-1876

1998

818262

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.

Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations.

Nephron

88

268-272

2001

818263

Nanjee M.N.,Stocks J.,Cooke C.J.,Molhuizen H.O.,Marcovina S.,Crook D.,Kastelein J.P.,Miller N.E.

A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.

Atherosclerosis

170

105-113

2003

818264

Morabia A.,Cayanis E.,Costanza M.C.,Ross B.M.,Flaherty M.S.,Alvin G.B.,Das K.,Gilliam T.C.

Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.

Hum. Mol. Genet.

12

2733-2743

2003

818265

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.

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.

Arterioscler. Thromb. Vasc. Biol.

25

1972-1978

2005

818266

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.

Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.

Atherosclerosis

185

413-420

2006

818267

Hoerl G.,Kroisel P.M.,Wagner E.,Tiran B.,Petek E.,Steyrer E.

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

Atherosclerosis

187

101-109

2006

818268

Gigante M.,Ranieri E.,Cerullo G.,Calabresi L.,Iolascon A.,Assmann G.,Morrone L.,Pisciotta L.,Schena F.P.,Gesualdo L.

LCAT deficiency: molecular and phenotypic characterization of an Italian family.

J. Nephrol.

19

375-381

2006

818269

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.

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.

Hum. Mutat.

32

1290-1298

2011