Property Summary

NCBI Gene PubMed Count 157
PubMed Score 329.99
PubTator Score 1285.90

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
astrocytic glioma 2.000 5.4e-04
posterior fossa group B ependymoma 2.600 9.6e-09
oligodendroglioma 3.200 3.3e-04
glioblastoma multiforme 1.100 3.5e-16
pancreatic ductal adenocarcinoma liver m... -1.957 2.2e-03
non-small cell lung cancer -1.627 8.6e-23
pilocytic astrocytoma 1.500 2.0e-03
ovarian cancer -1.300 2.6e-11

Gene RIF (105)

PMID Text
26232163 Report slightly reduction in LCAT that would probably reflect a delay in reverse cholesterol transport occurring in MetS.
26195816 Mapping the naturally occurring mutations onto the structure provides insight into how they may affect LCAT enzymatic activity.
26117245 rs5923 polymorphism is not associated with low high-density lipoprotein cholesterol(HDL-C)levels in Iranian population
26073399 The data indicate that this novel apoA-I missense is associated with markedly decreased levels of HDL cholesterol and very large alpha-1 HDL, as well as decreased serum cellular cholesterol efflux and LCAT activity
25964513 increased cholesterol esterification by LCAT is atheroprotective
25948084 This study investigated how the natural LCAT[T147I] and LCAT[P274S] mutations affect the pathway of biogenesis of high-density lipoproteins.
25589508 A robust all-atom model for LCAT generated by homology modeling
25110219 genetic polymorphism is associated with coronary artery disease in Egyptians
24842300 Cosyntropin testing in an unselected subgroup of 8 ABCA1 mutation carriers and 3 LCAT mutation carriers did not reveal differences between carriers and controls.
24789697 A synonymous H287H mutation in the coding region of exon 6 of the lecithin cholesterol acyltransferase gene was observed in an individual with HDLC levels of 75 mg/dl.
24620755 The enzyme lecithin-cholesterol acyltransferase esterifies cerebrosterol and limits its toxic effect on cultured neurons.
24423117 Activity of LCAT in HDL was increased in type 2 diabetes following increased fruit and vegetable intake.
24383078 The present study provides an important insight into the potential interactions between LCAT and lipoproteins and also suggests that peptides, initially present in a disordered conformation, are able to sense the lipid environment provided by lipoproteins of plasma and following a disorder-to-order transition, change their conformation to an ordered alpha-helix.
24140107 Results show that recombinant lecithin:cholesterol acyltransferase rhLCAt efficiently reduces the amount of unesterified cholesterol and promotes the production of plasma cholesteryl esters in LCAT deficient plasma.
23152129 Male soccer players had significantly higher lecithin-cholesterol acyltransferase activity than sedentary controls.
23142243 while LCAT activity is decreased in patients with T2DM, LCAT levels is increased. Patients with NIDDM exhibit opposing effects on LCAT activity and LCAT production which is more severe in women
23132909 a novel function of apoA-IV in the biogenesis of discrete HDL-A-IV particles with the participation of ABCA1 and LCAT
23078883 Pulse wave velocity is increased in LCAT mutation carriers with low HDL-c and is associated with carotid wall thickening.
23023370 carriers of LCAT mutations present with significant reductions in LCAT activity, HDL cholesterol, apoA-I, platelet-activating factor-acetylhydrolase activity and antioxidative potential of HDL, but this is not associated with parameters of increased lipid peroxidation
22418575 Studies indicate the direct effects of HDL and its major modulators, ATP-binding cassette transporter A1 (ABCA1), apolipoprotein A-I (ApoA-I), and lecithin cholesterol acyltransferase (LCAT) on the development of type 2 diabetes mellitus (T2D).
22326749 Studies suggest that absence of lecithin cholesterol acyltransferase (LCAT) may protect against insulin resistance, diabetes and obesity.
22189200 This review focuses on mutations in the LCAT gene as cause of familial hypoalphalipoproteinemia, and on their impact on plasma HDL-C, HDL profile and coronary heart disease.
22133847 Carriers of LCAT gene mutations exhibit increased carotid atherosclerosis
22090275 Low plasma HDL cholesterol levels robustly associated with increased risk of MI but genetically decreased HDL cholesterol did not.
21901787 functional mutations in LCAT were found in 29% of patients with low HDL-c, thus constituting a common cause of low HDL-c in referred patients in The Netherlands (LCAT)
21875686 mutations in ABCA1, APOA1, and LCAT are sufficient to explain more tha 40 percent of familial hypoalphalipoproteinemia
21822774 AAV8-mediated overexpression of human LCAT in hCETP/Ldlr(+/-) mice resulted in profound changes in plasma lipid profiles.
21798542 Continuous and intermittent walking alters HDL(2)-C and LCATa
21600519 LCAT activity and enzyme levels were significantly lower among subjects with low HDL-C compared with subjects with high HDL-C.
21597230 analysis of a mutation that causes a complete loss of catalytic activity of LCAT, which is also defective in secretion [case report]
21315357 Case Report: familial LCAT deficienty can cause nephropathy at a very early age.
20972250 Observational study of gene-disease association. (HuGE Navigator)
20890173 LCAT activity is significantly decreased in type 2 diabetes. The lower LCAT activity in type 2 diabetes might be through ox-LDL mechanism. Ox-LDL may adversely affect high-density lipoprotein -cholesterol metabolism by reducing LCAT activity.
20884842 Novel N-terminal mutation of human apolipoprotein A-I reduces self-association and impairs LCAT activation
20855565 Observational study of gene-disease association. (HuGE Navigator)
20714348 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20679960 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20167577 Observational study of gene-disease association. (HuGE Navigator)
20160193 Observational study of gene-disease association. (HuGE Navigator)
20031551 Observational study of gene-disease association. (HuGE Navigator)
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19878569 Observational study of gene-disease association. (HuGE Navigator)
19800416 Plasma lecithin: cholesterol acyltransferase activity modifies the inverse relationship of C-reactive protein with HDL cholesterol in nondiabetic men.
19698944 lecithin:cholesterol acyltransferase activity is not responsible for low incidence of cardiovascular events
19692168 Observational study of gene-disease association. (HuGE Navigator)
19687369 Genetically determined low LCAT activity in Italian families is not associated with enhanced preclinical atherosclerosis despite low high-density lipoprotein cholesterol levels.
19671930 Low LCAT plasma levels are not associated with increased atherosclerosis in the general population.
19625176 Observational study of gene-disease association. (HuGE Navigator)
19515369 Suggest that a LCAT-/- genotype associated with an APOE epsilon2 allele could be a novel mechanism leading to dysbetalipoproteinemia in familial LCAT deficient patients.
19336370 Observational study of gene-disease association. (HuGE Navigator)
19306528 Recent research findings from animal and human studies have revealed a potential beneficial role of LCAT in reducing atherosclerosis--REVIEW
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19060906 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18922527 Functional LCAT is not required for macrophage cholesterol efflux to human serum.
18823627 Observational study of gene-disease association. (HuGE Navigator)
18782872 Plasma LCAT activity is elevated in metabolic syndrome and may be a marker of subclinical atherosclerosis
18719109 oxidation of a single Met in apoA-I results in impaired LCAT activation
18676680 Observational study of gene-disease association. (HuGE Navigator)
18485513 HbA1c provides an easy-to-assess, accurate measure of LCAT activity in type 2 diabetes.
18397721 Analysis of the LCAT gene showed two novel point mutations in exon 2 and exon 3, leading to amino acid substitution. As far, these mutations have not been reported in FLD or FED patients.
18178167 Multiple linear regression analysis confirmed the independent association of cellular cholesterol efflux to plasma with cholesteryl ester transfer protein genotype
17855807 Observational study of gene-disease association. (HuGE Navigator)
17711302 The study establishes that apoA-I(Leu141Arg)Pisa and apoA-I(Leu159Arg)FIN inhibit an early step in the biogenesis of HDL due to inefficient esterification of the cholesterol of the prebeta1-HDL particles by the endogenous LCAT.
17526537 analysis of mutations in LCAT in two patients with severe LCAT deficiency [case report]
17357073 Observational study of gene-disease association. (HuGE Navigator)
17272829 decreased cholesterol-total cholesterol ratio in the plasma of human apolipoprotein A-I transgenic Scavenger Receptors, Class B, Type I-/- mice is attributed to a reduction in LCAT reactivity with sphingomyelin-enriched HDL particles
17216278 Apolipoprotein A=I activation affects the kinetics of the LCAT reaction
17206937 HDL particles generated by this pathway may account at least for some of the atheroprotective functions of apolipoprotein E
17113061 Observational study of gene-disease association. (HuGE Navigator)
16883530 The LCAT 608C/T polymorphism is possibly a predisposing factor in atherosclerotic cerebral infarction happening of Chinese Han population.
16883530 Observational study of gene-disease association. (HuGE Navigator)
16780378 Redistribution of charged residues in mutant LCAT may be a major factor responsible for the dramatically reduced activity of the enzyme with HDL and reconstituted high density lipoprotein (rHDL).
16770077 Observational study of gene-disease association. (HuGE Navigator)
16543491 Decreased LDL in LCAT-deficiency is attributable to increased catabolism caused by rapid catabolism of abnormal LDL and upregulation of LDL receptor pathway. Decreased catabolism of LpX contributes to its accumulation in LCAT-deficiency. (Lipoprotein X)
16542392 Observational study of gene-disease association. (HuGE Navigator)
16216249 analysis of mutations in the LCAT gene that result in an intermediate phenotype between LCAT-deficiency and fish-eye disease (case report)
16115486 Observational study of gene-disease association. (HuGE Navigator)
16061733 Mutation underlies increased carotid artery intima-media thickness, which suggests that LCAT protects against atherosclerosis.
16051254 a novel G-->A mutation in exon 6 of LCAT gene, which resulted in an amino acid substitution of valine for methionine in familial LCAT deficiency
15994445 the inheritance of a mutated LCAT genotype causes a gene-dose-dependent alteration in the plasma lipid/lipoprotein profile, which is remarkably similar between subjects classified as LCAT deficiency or fish eye disease
15936482 Deficiency is manifested by fish eye disease.
15544352 Selective LCAT-mediated reactivity with pre-beta 1-high density lipoprotein represents a novel mechanism increasing the efficiency of reverse cholesterol transport.
15472210 role of LCAT in estradiol-2 esterification and its involvement in antioxidant protection of HDL
15297675 Observational study of gene-disease association. (HuGE Navigator)
15297675 tested whether rare sequence variants of ABCA1, APOA1, and LCAT collectively contribute to variation in plasma levels of high density lipoprotein cholesterol; nonsynonymous sequence variants were significantly more common in individuals with low HDL-C
15115696 T13M mutation of LCAT gene causes fish-eye disease.
15110745 Observational study of gene-disease association. (HuGE Navigator)
15102891 Postprandial chylomicrons may play an important role in promoting reverse cholesterol transport in vivo by serving as the preferred ultimate vehicle for transporting cholesterol released from cell membranes to the liver via LCAT and CETP.
12957688 Familial lecithin:cholesterol acyltransferase (LCAT) deficiency, arising from mutation, is associated with complete absence of Lecithin:cholesterol acyltransferase (LCAT) activity.
12673583 Observational study of gene-disease association. (HuGE Navigator)
12673583 608T polymorphism of LCAT gene was associated with higher plasma HDL-C level in Coronary Arteriosclerosis patients.
12573451 comparison of 5 natural point mutations of apo A-I illustrates that a specific sequence between amino acids 110 and 162 is required for LCAT activation
12174215 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12139471 Endotoxin-lipoprotein complex formation as a factor in atherogenesis: associations with hyperlipidemia and with lecithin:cholesterol acyltransferase activity
12051518 The results suggest that as follicle maturation progresses, Toc and Asc concentrations increase in follicular fluid, thus protecting LCAT from oxidative damage and loss of activity
12048121 Observational study of gene-disease association. (HuGE Navigator)
12048121 In conclusion, 12% of Hypoalphalipoproteinemia subjects were found to carry mutations in apo A-I, LCAT, or GBA genes
12032172 IL-6 induced activation of full-length LCAT promoter activity. A minimal IL-6 response element mapped within the distal promoter and was sufficient to mediate the IL-6 response
11966470 Results suggest that LCAT may take part in the detoxification of oxidants even after the loss of its cholesterol esterification function.
11882335 The lecithin:cholesterol acyltransferase (LCAT) activity in cord blood was extremely low.

AA Sequence

MGPPGSPWQWVTLLLGLLLPPAAPFWLLNVLFPPHTTPKAELSNHTRPVILVPGCLGNQLEAKLDKPDVV      1 - 70
NWMCYRKTEDFFTIWLDLNMFLPLGVDCWIDNTRVVYNRSSGLVSNAPGVQIRVPGFGKTYSVEYLDSSK     71 - 140
LAGYLHTLVQNLVNNGYVRDETVRAAPYDWRLEPGQQEEYYRKLAGLVEEMHAAYGKPVFLIGHSLGCLH    141 - 210
LLYFLLRQPQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDNQGIPIMSSIKLKEEQRITTTSPWMFPSR    211 - 280
MAWPEDHVFISTPSFNYTGRDFQRFFADLHFEEGWYMWLQSRDLLAGLPAPGVEVYCLYGVGLPTPRTYI    281 - 350
YDHGFPYTDPVGVLYEDGDDTVATRSTELCGLWQGRQPQPVHLLPLHGIQHLNMVFSNLTLEHINAILLG    351 - 420
AYRQGPPASPTASPEPPPPE                                                      421 - 440
//

Text Mined References (171)

PMID Year Title
26232163 2015 Increased cholesterol efflux capacity in metabolic syndrome: Relation with qualitative alterations in HDL and LCAT.
26195816 2015 The high-resolution crystal structure of human LCAT.
26117245 2015 Association of Lecithin Cholesterol Acyltransferase rs5923 Polymorphism in Iranian Individuals with Extremely Low High-Density Lipoprotein Cholesterol: Tehran Lipid and Glucose Study.
26073399 Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.
25964513 2015 Increased plasma cholesterol esterification by LCAT reduces diet-induced atherosclerosis in SR-BI knockout mice.
25948084 2015 The Effect of Natural LCAT Mutations on the Biogenesis of HDL.
25727495 2015 Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.
25589508 2015 A robust all-atom model for LCAT generated by homology modeling.
25110219 Increased risk of premature coronary artery disease in Egyptians with ABCA1 (R219K), CETP (TaqIB), and LCAT (4886C/T) genes polymorphism.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24842300 2014 Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
24789697 2014 Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL?C levels.
24620755 2014 The enzyme lecithin-cholesterol acyltransferase esterifies cerebrosterol and limits the toxic effect of this oxysterol on SH-SY5Y cells.
24423117 2014 A randomised controlled trial of increasing fruit and vegetable intake and how this influences the carotenoid concentration and activities of PON-1 and LCAT in HDL from subjects with type 2 diabetes.
24383078 2013 Lecithin cholesterol acyltransferase (LCAT) activity in the presence of Apo-AI-derived peptides exposed to disorder-order conformational transitions.
24140107 2013 Recombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23152129 2013 High-density lipoprotein cholesterol subfractions and lecithin: cholesterol acyltransferase activity in collegiate soccer players.
23142243 2013 Diabetes induces gender gap on LCAT levels and activity.
23132909 2013 ApoA-IV promotes the biogenesis of apoA-IV-containing HDL particles with the participation of ABCA1 and LCAT.
23078883 2012 Patients with low HDL-cholesterol caused by mutations in LCAT have increased arterial stiffness.
23023370 2012 Lipid oxidation in carriers of lecithin:cholesterol acyltransferase gene mutations.
22418575 2012 The role of HDL and its modulators in the development of diabetes.
22326749 2012 The role of lecithin:cholesterol acyltransferase in the modulation of cardiometabolic risks - a clinical update and emerging insights from animal models.
22189200 2012 Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.
22133847 2011 Carriers of lecithin cholesterol acyltransferase gene mutations have accelerated atherogenesis as assessed by carotid 3.0-T magnetic resonance imaging [corrected].
22090275 2012 LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals.
21901787 2011 High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
21875686 2012 Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.
21822774 2011 AAV8-mediated long-term expression of human LCAT significantly improves lipid profiles in hCETP;Ldlr(+/-) mice.
21798542 2011 Continuous and intermittent walking alters HDL(2)-C and LCATa.
21659329 2011 Endoplasmic reticulum-located PDAT1-2 from castor bean enhances hydroxy fatty acid accumulation in transgenic plants.
21600519 Effects of lecithin: cholesterol acyltransferase genotypes, enzyme levels, and activity on high-density lipoprotein levels.
21597230 2011 Molecular analysis of a novel LCAT mutation (Gly179 ? Arg) found in a patient with complete LCAT deficiency.
21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
21315357 2011 Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase.
20972250 2011 Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
20890173 2011 Oxidized low-density lipoprotein is negatively correlated with lecithin-cholesterol acyltransferase activity in type 2 diabetes mellitus.
20884842 2011 Novel N-terminal mutation of human apolipoprotein A-I reduces self-association and impairs LCAT activation.
20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
20855565 2010 Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
20714348 2010 Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20679960 2010 Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20167577 2010 Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
20160193 2010 Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.
20031551 2008 Pharmacogenetic predictors of statin-mediated low-density lipoprotein cholesterol reduction and dose response.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19878569 2009 Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
19800416 2010 Plasma lecithin: cholesterol acyltransferase activity modifies the inverse relationship of C-reactive protein with HDL cholesterol in nondiabetic men.
19698944 2010 High plasma lecithin:cholesterol acyltransferase activity does not predict low incidence of cardiovascular events: possible attenuation of cardioprotection associated with high HDL cholesterol.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19687369 2009 Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans.
19671930 2010 Plasma levels of lecithin:cholesterol acyltransferase and risk of future coronary artery disease in apparently healthy men and women: a prospective case-control analysis nested in the EPIC-Norfolk population study.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19515369 2009 Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19306528 2009 Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19065001 2009 LCAT synthesized by primary astrocytes esterifies cholesterol on glia-derived lipoproteins.
19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18922527 2009 Functional LCAT is not required for macrophage cholesterol efflux to human serum.
18823627 2009 Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study.
18782872 2008 Plasma lecithin: cholesterol acyltransferase activity is elevated in metabolic syndrome and is an independent marker of increased carotid artery intima media thickness.
18719109 2008 Methionine oxidation impairs reverse cholesterol transport by apolipoprotein A-I.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18485513 2008 HbA1c negatively correlates with LCAT activity in type 2 diabetes.
18397721 2008 Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs).
18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
18178167 The ability of plasma to stimulate fibroblast cholesterol efflux is associated with the -629C-->A cholesteryl ester transfer protein promoter polymorphism: role of lecithin: cholesterol acyltransferase activity.
17950106 2007 Relationship of endogenous hyperleptinemia to serum paraoxonase 1, cholesteryl ester transfer protein, and lecithin cholesterol acyltransferase in obese individuals.
17855807 2007 Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.
17711302 2007 LCAT can rescue the abnormal phenotype produced by the natural ApoA-I mutations (Leu141Arg)Pisa and (Leu159Arg)FIN.
17526537 2007 Molecular characterization of two patients with severe LCAT deficiency.
17357073 2007 Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.
17272829 2007 Functional LCAT deficiency in human apolipoprotein A-I transgenic, SR-BI knockout mice.
17216278 2007 The impact of glycation on apolipoprotein A-I structure and its ability to activate lecithin:cholesterol acyltransferase.
17206937 2007 Pathway of biogenesis of apolipoprotein E-containing HDL in vivo with the participation of ABCA1 and LCAT.
17113061 2007 Do mutations causing low HDL-C promote increased carotid intima-media thickness?
16883530 2006 [Lecithin-cholesterol acyltransferase gene 608C/T polymorphism associated with atherosclerotic cerebral infarction].
16874701 LCAT deficiency: molecular and phenotypic characterization of an Italian family.
16780378 2006 Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase.
16770077 2006 Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations.
16543491 2006 Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X.
16542392 2006 Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16216249 2006 Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.
16115486 2005 Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.
16061733 2005 Compromised LCAT function is associated with increased atherosclerosis.
16051254 2006 Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.
15994445 2005 The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.
15936482 2005 [Fish eye disease revealing a partial LCAT deficiency].
15654758 2005 Apolipoprotein E is the major physiological activator of lecithin-cholesterol acyltransferase (LCAT) on apolipoprotein B lipoproteins.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15544352 2004 Molecular mechanism of reverse cholesterol transport: reaction of pre-beta-migrating high-density lipoprotein with plasma lecithin/cholesterol acyltransferase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15472210 2004 Lecithin/cholesterol acyltransferase induces estradiol esterification in high-density lipoprotein, increasing its antioxidant potential.
15297675 2004 Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
15210842 2004 Remodeling of HDL remnants generated by scavenger receptor class B type I.
15115696 2004 T13M mutation of lecithin-cholesterol acyltransferase gene causes fish-eye disease.
15110745 2004 Novel P143L polymorphism of the LCAT gene is associated with dyslipidemia in Chinese patients who have coronary atherosclerotic heart disease.
15102891 2004 Postprandial chylomicrons: potent vehicles for transporting cholesterol from endogenous LDL+HDL and cell membranes to the liver via LCAT and CETP.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14651331 2003 Role of lipases, lecithin:cholesterol acyltransferase and cholesteryl ester transfer protein in abnormal high density lipoprotein metabolism in insulin resistance and type 2 diabetes mellitus.
14636062 2003 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.
12966036 2003 Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
12957688 2003 A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.
12673583 2003 [Study on the association of lecithin cholesterol acyltransferase gene polymorphisms with the lipid metabolism in coronary atherosclerotic heart disease].
12573451 2003 Natural mutations of apolipoprotein A-I impairing activation of lecithin:cholesterol acyltransferase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12417987 2002 A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
12174215 2002 Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men.
12167653 2002 ApoA-I structure on discs and spheres. Variable helix registry and conformational states.
12139471 2002 Endotoxin-lipoprotein complex formation as a factor in atherogenesis: associations with hyperlipidemia and with lecithin:cholesterol acyltransferase activity.
12051518 2002 Lecithin-cholesterol acyltransferase activity during maturation of human preovulatory follicles with different concentrations of ascorbate, alpha-tocopherol and nitrotyrosine.
12048121 2002 Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia.
12032172 2002 Identification of an IL-6 response element in the human LCAT promoter.
11966470 2002 Role of the interfacial binding domain in the oxidative susceptibility of lecithin:cholesterol acyltransferase.
11882335 2002 Unique character and metabolism of high density lipoprotein (HDL) in fetus.
11435418 2001 Interaction of lecithin:cholesterol acyltransferase (LCAT).alpha 2-macroglobulin complex with low density lipoprotein receptor-related protein (LRP). Evidence for an alpha 2-macroglobulin/LRP receptor-mediated system participating in LCAT clearance.
11423760 2001 Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations.
10858436 2000 A key point mutation (V156E) affects the structure and functions of human apolipoprotein A-I.
10722751 2000 Formation of spherical, reconstituted high density lipoproteins containing both apolipoproteins A-I and A-II is mediated by lecithin:cholesterol acyltransferase.
10559507 1999 Fractional efflux and net change in cellular cholesterol content mediated by sera from mice expressing both human apolipoprotein AI and human lecithin:cholesterol acyltransferase genes.
10329423 1999 Binding affinity and reactivity of lecithin cholesterol acyltransferase with native lipoproteins.
10222237 1999 Secretion of lecithin:cholesterol acyltransferase by brain neuroglial cell lines.
9829992 1998 Structural and functional properties of two mutants of lecithin-cholesterol acyltransferase (T123I and N228K).
9741700 1998 Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.
9261271 1997 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.
9162740 1997 The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.
9007616 1996 A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.
8820107 1996 Comparative studies on the substrate specificity of lecithin:cholesterol acyltransferase towards the molecular species of phosphatidylcholine in the plasma of 14 vertebrates.
8807342 1996 Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.
8675648 1995 A unique genetic and biochemical presentation of fish-eye disease.
8620346 1996 Two novel molecular defects in the LCAT gene are associated with fish eye disease.
8432868 1993 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.
8326012 1993 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.
8318557 1993 Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.
7711728 1995 Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.
7613477 1995 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.
7607641 1995 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.
6624548 1983 A new case of familial LCAT deficiency.
6078131 1967 Familial serum-cholesterol esterification failure. A new inborn error of metabolism.
4335615 1972 A protein cofactor of lecithin:cholesterol acyltransferase.
3797244 1986 Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.
3674753 1987 The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22.
3458198 1986 Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.
3104518 1986 Distribution and localization of lecithin:cholesterol acyltransferase and cholesteryl ester transfer activity in A-I-containing lipoproteins.
2880847 1987 Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme.
2823898 1987 The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase.
2823801 1987 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.
2370048 1990 Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.
2052566 1991 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.
1859405 1991 Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.
1737840 1992 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).
1681161 1991 Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.
1662503 1991 Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease.
1644835 1992 Site-directed mutagenesis and structure-function analysis of the human apolipoprotein A-I. Relation between lecithin-cholesterol acyltransferase activation and lipid binding.
1587806 1992 Interaction of rat lecithin-cholesterol acyltransferase with rat apolipoprotein A-I and with lecithin-cholesterol vesicles.
1571050 1992 An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.
1516702 1992 The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.
1468226 1992 Corneal opacity in LCAT disease.
806250 1975 Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.