lecithin acyltransferase deficiency

Summary

Summary: A disease characterized by deficiency or low levels of plasma lecithin cholesterol acyl transferase. Clinical manifestations include corneal opacity, anemia, and proteinuria.

Top Publications

  1. pmc Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease
    D J Rader
    Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Invest 93:321-30. 1994
  2. ncbi Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans
    Laura Calabresi
    Center E Grossi Paoletti, Department of Pharmacological Sciences, Universita degli Studi di Milano, 20133 Milano, Italy
    Circulation 120:628-35. 2009
  3. ncbi The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
    Laura Calabresi
    Center E Grossi Paoletti, Department of Pharmacological Sciences, University of Milano, 20133 Milan, Italy
    Arterioscler Thromb Vasc Biol 25:1972-8. 2005
  4. pmc 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
    H G Klein
    Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Invest 92:479-85. 1993
  5. ncbi LCAT deficiency: molecular and phenotypic characterization of an Italian family
    Maddalena Gigante
    Department of Biomedical Sciences, University of Foggia, Foggia, Italy
    J Nephrol 19:375-81. 2006
  6. ncbi Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up
    Amir F Ayyobi
    Healthy Heart Program, St Paul s Hospital, University of British Columbia, 1081 Burrard Street, Suite 180 20, Vancouver, BC, Canada V6Z 1Y6
    Atherosclerosis 177:361-6. 2004
  7. ncbi The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
    J A Kuivenhoven
    Department of Vascular Medicine, University of Amsterdam, The Netherlands
    J Lipid Res 38:191-205. 1997
  8. ncbi Hypertriglyceridemia in lecithin-cholesterol acyltransferase-deficient mice is associated with hepatic overproduction of triglycerides, increased lipogenesis, and improved glucose tolerance
    Dominic S Ng
    Department of Medicine, St Michael s Hospital, Toronto, Ontario M5B 1A6, Canada
    J Biol Chem 279:7636-42. 2004
  9. ncbi 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)
    P Aranda
    Nephrology and Pathology, Hospital Carlos Haya, SAS, Italy
    Clin Nephrol 69:213-8. 2008
  10. ncbi Plasma cholesteryl esters provided by lecithin:cholesterol acyltransferase and acyl-coenzyme a:cholesterol acyltransferase 2 have opposite atherosclerotic potential
    Richard G Lee
    Arteriosclerosis Research Program, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Circ Res 95:998-1004. 2004

Scientific Experts

Detail Information

Publications136 found, 100 shown here

  1. pmc Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease
    D J Rader
    Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Invest 93:321-30. 1994
    ....
  2. ncbi Functional lecithin: cholesterol acyltransferase is not required for efficient atheroprotection in humans
    Laura Calabresi
    Center E Grossi Paoletti, Department of Pharmacological Sciences, Universita degli Studi di Milano, 20133 Milano, Italy
    Circulation 120:628-35. 2009
    ..Theoretically, hypoalphalipoproteinemia cases with LCAT deficiency should be at increased cardiovascular risk because of high-density lipoprotein deficiency and defective reverse cholesterol transport...
  3. ncbi The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
    Laura Calabresi
    Center E Grossi Paoletti, Department of Pharmacological Sciences, University of Milano, 20133 Milan, Italy
    Arterioscler Thromb Vasc Biol 25:1972-8. 2005
    ..To better understand the role of lecithin:cholesterol acyltransferase (LCAT) in lipoprotein metabolism through the genetic and biochemical characterization of families carrying mutations in the LCAT gene...
  4. pmc 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
    H G Klein
    Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Invest 92:479-85. 1993
    ....
  5. ncbi LCAT deficiency: molecular and phenotypic characterization of an Italian family
    Maddalena Gigante
    Department of Biomedical Sciences, University of Foggia, Foggia, Italy
    J Nephrol 19:375-81. 2006
    ..This study describes for the first time the occurrence of two homozygous missense mutations as the common variant p.S208T and the mutation p.L372R in familial LCAT deficiency...
  6. ncbi Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up
    Amir F Ayyobi
    Healthy Heart Program, St Paul s Hospital, University of British Columbia, 1081 Burrard Street, Suite 180 20, Vancouver, BC, Canada V6Z 1Y6
    Atherosclerosis 177:361-6. 2004
    ..We conclude that, in this kindred, no significant vascular changes were observed in the homozygotes. However, heterozygocity for LCAT deficiency is associated with both an atherogenic lipid profile and vascular abnormalities...
  7. ncbi The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
    J A Kuivenhoven
    Department of Vascular Medicine, University of Amsterdam, The Netherlands
    J Lipid Res 38:191-205. 1997
    ..However, premature CAD remains an unusual clinical complication in FLD subjects...
  8. ncbi Hypertriglyceridemia in lecithin-cholesterol acyltransferase-deficient mice is associated with hepatic overproduction of triglycerides, increased lipogenesis, and improved glucose tolerance
    Dominic S Ng
    Department of Medicine, St Michael s Hospital, Toronto, Ontario M5B 1A6, Canada
    J Biol Chem 279:7636-42. 2004
    ..014). Both the HTG and the improved fasting glucose phenotype seen in the dko mice are at least in part attributable to an up-regulation of the hepatic srebp-1c gene...
  9. ncbi 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)
    P Aranda
    Nephrology and Pathology, Hospital Carlos Haya, SAS, Italy
    Clin Nephrol 69:213-8. 2008
    ....
  10. ncbi Plasma cholesteryl esters provided by lecithin:cholesterol acyltransferase and acyl-coenzyme a:cholesterol acyltransferase 2 have opposite atherosclerotic potential
    Richard G Lee
    Arteriosclerosis Research Program, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Circ Res 95:998-1004. 2004
    ..Overall, the data suggest that ACAT2-derived CE is the predominant atherogenic lipid in blood, and that an important goal for prevention of atherosclerosis is to limit ACAT2-derived CE accumulation in lipoproteins...
  11. pmc A novel in vivo lecithin-cholesterol acyltransferase (LCAT)-deficient mouse expressing predominantly LpX is associated with spontaneous glomerulopathy
    Xianghong Zhu
    Department of Medicine, St Michael s Hospital West Annex 2 015, 38 Shuter Street, Toronto, Ontario M5B 1A6 Canada
    Am J Pathol 165:1269-78. 2004
    ....
  12. ncbi Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency
    P Teisberg
    Ann Hum Genet 38:327-31. 1975
    ..Association was revealed between the LCAT deficiency gene and the Hp-1S gene. We propose that the LCAT gene is situated close to the alpha-haptoglobin locus on chromosome no. 16...
  13. ncbi Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease
    Gerd Hörl
    Department of Molecular Biology and Biochemistry, Center for Molecular Medicine, Medical University of Graz, Harrachgasse 21, A 8010 Graz, Austria
    Atherosclerosis 187:101-9. 2006
    ..Our data are in line with the hypothesis that a key event in the etiology of FLD is the loss of distinct lipoprotein fractions...
  14. ncbi A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100
    M Nazeem Nanjee
    Cardiovascular Biochemistry Unit, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary, University of London, Charterhouse Square, London EC1M 6BQ, UK
    Atherosclerosis 170:105-13. 2003
    ..The proband had no signs of coronary heart disease (CHD), but his father, a paternal uncle and a female cousin had CHD before age 38 years...
  15. ncbi Alterations in erythrocyte membrane lipid and its fragility in a patient with familial lecithin:cholesterol acyltrasferase (LCAT) deficiency
    Takeo Suda
    Department of Nutrition, The University of Tokushima School of Medicine, Japan
    J Med Invest 49:147-55. 2002
    ..These findings indicate that normochromic anemia of the patient might be caused by erythrocyte fragility resulting from decreased deformity and/or abnormal shape of the cells due to abnormal lipid composition in the membrane...
  16. ncbi Corneal and macular manifestations in a case of deficient lecithin: cholesterol acyltransferase
    Koji Hirano
    Jpn J Ophthalmol 48:82-4. 2004
  17. pmc A unique genetic and biochemical presentation of fish-eye disease
    J A Kuivenhoven
    Department of Haemostasis, Thrombosis, Atherosclerosis and Inflammation Research, Academic Medical Centre, University of Amsterdam, The Netherlands
    J Clin Invest 96:2783-91. 1995
    ..The impact of this mutation on HDL levels and HDL subclass distribution may be related to the premature coronary artery disease observed in the male probands...
  18. ncbi Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism
    J S Hill
    University Hospital Lipid Research Group, Department of Pathology, University of British Columbia, Vancouver, Canada
    Biochim Biophys Acta 1181:321-3. 1993
    ..We demonstrate that the Ala-93-->Thr mutation is responsible for the biochemical defect while the Arg-158-->Cys mutation is a co-inherited natural polymorphism of LCAT which results in normal enzyme function...
  19. ncbi Oxidative stress is markedly elevated in lecithin:cholesterol acyltransferase-deficient mice and is paradoxically reversed in the apolipoprotein E knockout background in association with a reduction in atherosclerosis
    Dominic S Ng
    Department of Medicine, St Michael s Hospital, Toronto, Ontario, Canada
    J Biol Chem 277:11715-20. 2002
    ..This modulation of oxidative stress may in part contribute to the reduced atherosclerosis seen in the apoE-/- xlcat-/- mice...
  20. ncbi Disruption of the murine lecithin:cholesterol acyltransferase gene causes impairment of adrenal lipid delivery and up-regulation of scavenger receptor class B type I
    D S Ng
    Human Genome Center, Life Sciences Division, Lawrence Berkeley National Laboratory, University of California, Berkeley, California 94720, USA
    J Biol Chem 272:15777-81. 1997
    ....
  21. ncbi Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
    E Maeda
    Second Department of Internal Medicine, Kobe University School of Medicine, Hyogo, Japan
    Biochem Biophys Res Commun 178:460-6. 1991
    ....
  22. pmc A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities
    H Funke
    Institut fur Klinische Chemie und Laboratoriumsmedizin, Universitat Munster, FRG
    J Clin Invest 87:371-6. 1991
    ..Our results suggest that a defective apo A-I is the causative defect in this case of HDL deficiency with corneal opacities...
  23. ncbi In vivo contribution of LCAT to apolipoprotein B lipoprotein cholesteryl esters in LDL receptor and apolipoprotein E knockout mice
    James W Furbee
    Department of Pathology, Section on Comparative Medicine, Wake Forest University School of Medicine, Medical Center Blvd, Winston Salem, NC 27157 1040, USA
    J Lipid Res 43:428-37. 2002
    ..7% to 0%). Our results demonstrate that LCAT contributes significantly to the CEFA pool of apoB lipoprotein and is the only source of plasma long chain polyunsaturated CE in these mice...
  24. ncbi Dramatic atherosclerotic vascular burden in a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency
    Roberto Scarpioni
    Nephrol Dial Transplant 23:1074; author reply 1074-5. 2008
  25. ncbi Corneal opacity in LCAT disease
    D G Cogan
    Cornea and Cataract Section, National Eye Institute, Bethesda, Maryland 20892
    Cornea 11:595-9. 1992
    ....
  26. ncbi Visual behavior of adult goldfish with regenerating retina
    Amy E Lindsey
    Department of Psychology and Vanderbilt Vision Research Center, Vanderbilt University, Nashville, Tennessee, USA
    Vis Neurosci 24:247-55. 2007
    ....
  27. ncbi Cardiac surgery for a patient with familial lecithin: cholesterol acyltransferase deficiency
    Tsukasa Miyatake
    Department of Cardiovascular Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    Jpn J Thorac Cardiovasc Surg 53:317-9. 2005
    ..To date, no record of cardiac surgery on patients with LCAT deficiency has been reported. Thus, we present the result of this experience to share what we learned about this complicated and rare disease...
  28. ncbi Lipoprotein metabolism: a well-tried tool to characterize dyslipidemic mechanisms
    Lars Berglund
    Arterioscler Thromb Vasc Biol 26:1201-3. 2006
  29. ncbi [Familial lecithin-cholesterol acyltransferase (LCAT) deficiency]
    Sadao Takahashi
    Third Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui
    Nihon Rinsho 65:614-7. 2007
  30. ncbi [Fish eye disease]
    Makoto Kinoshita
    Department of Internal Medicine, Teikyo University School of Medicine
    Nihon Rinsho 65:618-20. 2007
  31. ncbi Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn)
    H G Klein
    Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892
    J Lipid Res 34:49-58. 1993
    ..In summary, we have identified two unique defects in the LCAT gene that lead to the expression of classic LCAT deficiency in this kindred...
  32. pmc Lecithin cholesterol acyltransferase: an anti- or pro-atherogenic factor?
    Xavier Rousset
    Institutes of Health, National Heart, Lung and Blood Institute, Cardio Pulmonary Branch, Lipoprotein Metabolism Section, 10 Center Dr Bldg 10 8N224, Bethesda, MD 20814, USA
    Curr Atheroscler Rep 13:249-56. 2011
    ....
  33. ncbi A case of familial lecithin-cholesterol acyltransferase deficiency on hemodialysis for over 20 years
    Y Tsuchiya
    Nephrology Center and Department of Pathology, Toranomon Hospital Kajigaya, Takatsu, Kanagawa, Japan
    Clin Nephrol 76:492-8. 2011
    ..Cardiovascular events have not yet occurred, although severe calcification of abdominal aorta has been detected by computed tomography...
  34. ncbi Molecular analysis of a novel LCAT mutation (Gly179 → Arg) found in a patient with complete LCAT deficiency
    Xiao Li Wang
    Division of Endcrinology and Metabolism, Diabetes Center, Department of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan
    J Atheroscler Thromb 18:713-9. 2011
    ..LCAT activity was barely detectable in the cell lysate or medium of the cells expressing the G179R mutant. This novel missense mutation seems to cause a complete loss of catalytic activity of LCAT, which is also defective in secretion...
  35. ncbi Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature
    Bijan Roshan
    Joslin Diabetes Center, Harvard Medical School, Boston, MA, USA
    J Clin Lipidol 5:493-9. 2011
    ....
  36. pmc Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice
    Lauren Hager
    Keenan Research Centre, Li Ka Shing Knowledge Institute, Department of Medicine, St Michael s Hospital, Toronto M5B 1W8, Canada
    J Biol Chem 287:20755-68. 2012
    ..Thus, factors influencing the accumulation of ER cholesterol may be important for the development of hepatic insulin resistance...
  37. pmc Approach to the patient with extremely low HDL-cholesterol
    Daniel J Rader
    Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, 11 125 Translational Research Center, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA
    J Clin Endocrinol Metab 97:3399-407. 2012
    ..Uncommon encounters with patients exhibiting extremely low HDL-C provide an opportunity to directly observe the role of HDL metabolism in atherosclerosis and beyond the vascular system...
  38. ncbi High density lipoproteins, reverse transport of cholesterol, and coronary artery disease. Insights from mutations
    G Assmann
    Institute of Clinical Chemistry and Laboratory Medicine, Westphalian Wilhelms University, Munster, Germany
    Circulation 87:III28-34. 1993
    ....
  39. ncbi [Familial LCAT deficiency--clinical picture. Case report]
    B Idzior-Walus
    Katedra i Klinika Chorób Metabolicznych Collegium Medicum UJ w Krakowie
    Pol Arch Med Wewn 104:591-6. 2000
    ....
  40. ncbi Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappa B
    E G Lynn
    Department of Pharmacology, Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China
    Kidney Int 60:520-32. 2001
    ..The objective of the present study was to examine the effect of Lp-X on MCP-1 expression in mesangial cells leading to an enhanced monocyte chemotaxis and to elucidate the mechanisms involved in this process...
  41. ncbi [LCAT (lecithin:cholesterol acyltransferase)]
    M Kinoshita
    Teikyo University School of Medicine
    Rinsho Byori . 2001
    ..Familial LCAT Deficiency and Fish Eye Disease are disorders that lack LCAT activity congenitally...
  42. ncbi Molecular characterization of two patients with severe LCAT deficiency
    Valentine Charlton-Menys
    Cardiovascular Research Group, University of Manchester, Manchester Royal Infirmary, Manchester, UK
    Nephrol Dial Transplant 22:2379-82. 2007
  43. ncbi Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X
    Masato Nishiwaki
    Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
    Arterioscler Thromb Vasc Biol 26:1370-5. 2006
    ..In addition, the mechanism(s) for LpX accumulation is not known. The aim of the present study is to elucidate the mechanism(s) responsible for the low LDL and determine the plasma kinetics of LpX in LCAT-def...
  44. ncbi Functional LCAT is not required for macrophage cholesterol efflux to human serum
    Laura Calabresi
    Center E Grossi Paoletti, Department of Pharmacological Sciences, University of Milano, Milano, Italy
    Atherosclerosis 204:141-6. 2009
    ..To evaluate the capacity of serum from carriers of LCAT gene mutations to promote cell cholesterol efflux through the ABCA1, ABCG1, and SR-BI pathways...
  45. ncbi Changes in lipoprotein profile and urinary albumin excretion in familial LCAT deficiency with lipid lowering therapy
    Michael S Yee
    Imperial College London, St Mary s Hospital, London, UK
    Atherosclerosis 205:528-32. 2009
    ..We have shown, we believe for the first time, that combination lipid modifying therapy in FLD leads to a reduction in Lp(X) concentration and an associated reduction in urine albumin excretion at 12 months...
  46. ncbi [Ocular manifestation in LCAT deficiency--a clinicopathological correlation]
    Arne Viestenz
    Augenklinik mit Poliklinik, Friedrich Alexander Universität Erlangen Nuremberg, Erlangen
    Klin Monbl Augenheilkd 220:499-502. 2003
    ....
  47. ncbi In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency
    Pat Michael Palmiero
    Einhorn Clinical Research Center, New York Eye and Ear Infirmary, New York, NY 10003, USA
    Cornea 28:1061-4. 2009
    ..To report high-resolution, in vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase (LCAT) deficiency...
  48. ncbi Disturbed apolipoprotein A-I-containing lipoproteins in fish-eye disease are improved by the lecithin:cholesterol acyltransferase produced by gene-transduced adipocytes in vitro
    Sakiyo Asada
    Department of Genome Research and Clinical Application, Graduate School of Medicine, Chiba University, 1 8 1 Inohana, Chiba, Japan
    Mol Genet Metab 102:229-31. 2011
    ..Thus, these results using ccdPA/lcat strongly suggest the cell implantation could contribute the enzyme replacement for the patients with LCAT deficiency...
  49. ncbi Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase
    A G Holleboom
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Atherosclerosis 216:161-5. 2011
    ....
  50. ncbi Perturbations in the HDL metabolic pathway predispose to the development of osteoarthritis in mice following long-term exposure to western-type diet
    I E Triantaphyllidou
    Department of Anatomy Histology Embryology, Unit of Bone and Soft Tissue Studies, University of Patras, School of Medicine, Patras, Greece
    Osteoarthritis Cartilage 21:322-30. 2013
    ..Given the important role of high-density lipoprotein (HDL) in plasma and tissue lipid metabolism, the main purpose of the present study was to investigate the role of HDL metabolism in the pathobiology of OA...
  51. ncbi Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase
    L Holmquist
    King Gustaf V Research Institute, Stockholm, Sweden
    Lipids 23:225-9. 1988
    ..The results give further evidence that fish eye disease is an alpha-LCAT deficiency...
  52. ncbi Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
    T Gotoda
    Third Department of Internal Medicine, University of Tokyo, Japan
    Lancet 338:778-81. 1991
    ..These results show that distinct mutations cause differences in plasma LCAT activity and LCAT mass, ultimately leading to differential phenotypic expression of familial LCAT deficiency...
  53. ncbi Characterization of subspecies of apolipoprotein A-I-containing lipoprotein in homozygotes for familial lecithin:cholesterol acyltransferase deficiency
    T Ohta
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Arterioscler Thromb 14:1137-45. 1994
    ..These data, taken together, emphasize the importance of LCAT in modifying the chemical composition, size, and shape of LpA-I and LpA-I/A-II particles...
  54. pmc 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
    E Steyrer
    Institute of Medical Biochemistry, University of Graz, Austria
    J Clin Invest 94:2330-40. 1994
    ..In addition, we demonstrate that the absence of LCAT activity has a fundamental impact on the regulation of plasma Lp(a) levels...
  55. ncbi A new case of familial lecithin: cholesterol acyltransferase (LCAT) deficiency--paradoxical findings regarding LCAT mass and activity in 23 members of a family
    K Takata
    First Department of Internal Medicine, Faculty of Medicine, Hiroshima University, Japan
    Jpn J Med 28:765-71. 1989
    ..In contrast, among his seven maternal kindred examined, two had a low LCAT activity but normal mass...
  56. ncbi Japanese family with a deficiency of lecithin:cholesterol acyltransferase (LCAT)
    M Naito
    Department of Geriatrics, Nagoya University School of Medicine
    Intern Med 33:677-82. 1994
    ..The serum LCAT activity of the proband's three sons, obligate heterozygotes of LCAT deficiency, was about one-half the normal level, and HDL-cholesterol and apo A-I levels were low normal...
  57. ncbi Structural differences between wild-type and fish eye disease mutant of lecithin:cholesterol acyltransferase
    Yana Reshetnyak
    Department of Physics, University of Rhode Island, Kingston, Rhode Island 02881, USA
    J Biomol Struct Dyn 24:75-82. 2006
    ..We propose that the 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)...
  58. ncbi Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
    H Wiebusch
    Institut für Arterioskleroseforschung an der Universität Münster, Germany
    Hum Mol Genet 4:143-5. 1995
  59. ncbi Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA
    M Miller
    Department of Medicine, Veterans Administration Medical Center, Baltimore, MD 21201, USA
    J Lipid Res 36:931-8. 1995
    ..Expression studies of mutant LCAT cDNA confirmed the virtual absence of LCAT activity in transfected COS-1 cells. The molecular defect in a young male with complete LCAT deficiency has been identified using fibroblast cDNA...
  60. ncbi Lecithin-cholesterol acyltransferase deficiency presenting with acute pancreatitis: effect of infusion of normal plasma on triglyceride-rich lipoproteins
    G F Watts
    University Department of Medicine, University of Western Australia, Royal Perth Hospital
    J Intern Med 238:137-41. 1995
    ..Infusion of normal plasma corrects the dyslipidaemia in LCAT deficiency, but in the short term does not improve renal function...
  61. ncbi Cholesteryl ester transfer activity in plasma of patients with familial high-density lipoprotein deficiency
    D L Sparks
    Department of Pathology, University of British Columbia, Vancouver, Canada
    Clin Chem 34:1812-5. 1988
    ..Thus, the concentration of HDL in plasma does not directly affect total cholesteryl ester transfer activity in HDL deficiency...
  62. ncbi Study of the components of reverse cholesterol transport in lecithin:cholesterol acyltransferase deficiency
    M S Park
    Department of Biochemistry, Texas College of Osteopathic Medicine, North Texas State University, Fort Worth 76107
    Arch Biochem Biophys 258:545-54. 1987
    ....
  63. ncbi Ophthalmic observations in lecithin cholesterol acyltransferase deficiency
    M P Vrabec
    Department of Ophthalmology, University of Wisconsin Medical School, Madison
    Arch Ophthalmol 106:225-9. 1988
    ..We found the corneal change in the recessive state to be sensitive and specific as a marker of this condition. Heterozygotes appear to have a higher incidence of arcuslike corneal changes...
  64. ncbi Lecithin-cholesterol acyltransferase deficiency: first report of case in a United States citizen
    M J Neumann
    Department of Internal Medicine, Flint Osteopathic Hospital, Mich
    J Am Osteopath Assoc 94:333-5. 1994
    ..This article includes a case report of the first United States citizen known to have lecithin-cholesterol acyltransferase deficiency. The authors review the literature related to this disease...
  65. ncbi Evidence for impaired cellular cholesterol removal mediated by apo A-I containing lipoproteins in patients with familial lecithin: cholesterol acyltransferase deficiency
    T Ohta
    Department of Pediatrics, Kumamoto University School of Medicine, Japan
    Biochim Biophys Acta 1213:295-301. 1994
    ..We conclude that factors other than reverse cholesterol transport via apo A-I containing lipoproteins have to be considered to explain why homozygotes for LCAT deficiency are not at high risk for premature atherosclerosis...
  66. ncbi A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency
    S E Humphries
    Department of Biochemistry, St Mary s Hospital Medical School, London
    Clin Sci (Lond) 74:91-6. 1988
    ..4. We conclude that LCAT deficiency in these patients is not caused by a large deletion or rearrangement of the LCAT gene sequences...
  67. ncbi Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease
    H Bujo
    Second Department of Internal Medicine, School of Medicine, Chiba University, Japan
    Biochem Biophys Res Commun 181:933-40. 1991
    ..These results indicate that the clinical and biochemical feature of the patient is mainly caused by a complete deficiency of the enzyme based on a homozygous abnormality of LCAT gene...
  68. ncbi Apolipoprotein AIMilano. Partial lecithin:cholesterol acyltransferase deficiency due to low levels of a functional enzyme
    G Franceschini
    Center E Grossi Paoletti, Institute of Pharmacological Sciences, University of Milan, Italy
    Biochim Biophys Acta 1043:1-6. 1990
    ....
  69. ncbi Patients with low HDL-cholesterol caused by mutations in LCAT have increased arterial stiffness
    Bas van den Bogaard
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Atherosclerosis 225:481-5. 2012
    ..We investigated whether LCAT mutation carriers have increased arterial stiffness as a marker of cardiovascular disease and whether arterial stiffness was associated with carotid wall thickening...
  70. ncbi Lecithin/cholesterol acyltransferase modulates diet-induced hepatic deposition of triglycerides in mice
    Eleni A Karavia
    Pharmacology Unit, Department of Medicine, University of Patras Medical School, Panepistimioupolis, Rio, TK 26500, Greece
    J Nutr Biochem 24:567-77. 2013
    ..Our data extend the current knowledge on the functions of LCAT, indicating that LCAT activity is an important modulator of processes associated with diet-induced hepatic lipid deposition...
  71. ncbi Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease
    Laura Calabresi
    Center E Grossi Paoletti, Department of Pharmacological Sciences, Universita degli Studi di Milano, Via Balzaretti 9, 20133 Milano, Italy
    Atherosclerosis 222:299-306. 2012
    ..This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced preclinical atherosclerosis in carriers, despite the remarkably low HDL cholesterol...
  72. ncbi High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations
    Adriaan G Holleboom
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Hum Mutat 32:1290-8. 2011
    ..Unlike previous reports, 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...
  73. ncbi LCAT-null mice develop improved hepatic insulin sensitivity through altered regulation of transcription factors and suppressors of cytokine signaling
    Lixin Li
    Department of Medicine, St Michael s Hospital, Toronto, Ontario, Canada
    Am J Physiol Endocrinol Metab 293:E587-94. 2007
    ....
  74. ncbi Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent
    J J Kastelein
    Centre for Haemostasis, Thrombosis and Atherosclerosis, University of Amsterdam, The Netherlands
    J Intern Med 231:413-9. 1992
    ..Heterozygotes presented with half-normal LCAT activity, but not with decreased HDL. With the identification of this three-generation family, renewed investigation of this intriguing disorder of HDL is now possible...
  75. ncbi Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency
    Catherine L Weber
    Department of Medicine, Section of Nephrology, Laboratory Medicine, University of British Columbia St Paul s Hospital, 1081 Burrard Street, Providence Building, Room 6010A, Vancouver, British Columbia, Canada V6Z 1Y6
    Nephrol Dial Transplant 22:2084-8. 2007
  76. ncbi Functional LCAT deficiency in human apolipoprotein A-I transgenic, SR-BI knockout mice
    Ji Young Lee
    Department of Pathology Section on Lipid Sciences, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    J Lipid Res 48:1052-61. 2007
    ..We conclude that the decreased EC/TC ratio in the plasma of hA-ITg SR-BI-/- mice is attributed to a reduction in LCAT reactivity with SM-enriched HDL particles...
  77. ncbi Role of LCAT in HDL remodeling: investigation of LCAT deficiency states
    Bela F Asztalos
    Lipid Metabolism Laboratory, Jean Mayer US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University, Boston, MA, USA
    J Lipid Res 48:592-9. 2007
    ....
  78. ncbi [A case of familial lecithin: cholesterol acyltransferase deficiency]
    Y Baba
    Department of Internal Medicine, Saiseikai Sendai Hospital
    Nihon Jinzo Gakkai Shi 34:309-16. 1992
    ..Erythrocyte membrane fluidity was found to be decreased in the patient in a measurement by pyrene, probably being related to the changes in membrane lipid composition.(ABSTRACT TRUNCATED AT 250 WORDS)..
  79. ncbi A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features
    H Koster
    Department of Ophthalmology, Hotel Dieu, Paris, France
    Cornea 11:452-64. 1992
    ..Corneal tissue and familial biochemical analyses differed significantly from previous descriptions. On the basis of these findings, explanation of pathologic deposition and disease mechanism is proposed...
  80. ncbi Interaction of various lipoproteins from normal and dyslipoproteinemic plasma with mouse peritoneal macrophages
    M Rotheneder
    Institute of Medical Biochemistry, University of Graz, Austria
    Ann Biol Clin (Paris) 46:30-4. 1988
    ..It is concluded that the lipoproteins studied in this report by itself exert no atherogenic function in MPM. They may, however, aggravate the atherogenicity of other processes known to be involved in the development of vascular diseases...
  81. ncbi ApoA-I/phosphatidylcholine discs remodels fast-migrating HDL into slow-migrating HDL as characterized by capillary isotachophoresis
    Bo Zhang
    Departments of Cardiology, Fukuoka University School of Medicine, 7 45 1 Nanakuma Jonan ku, Fukuoka 814 0180, Japan
    Atherosclerosis 188:95-101. 2006
    ..We used this technique to examine the mechanism by which apoA-I/phosphatidylcholine (POPC) discs increase pre-beta HDL...
  82. ncbi Point mutation (C to T) of the LCAT gene resulting in A140C substitution
    Shuma Hirashio
    Department of Nephrology, Hiroshima University Hospital, Minato ku, Hiroshima, Japan
    J Atheroscler Thromb 17:1297-301. 2010
    ..These findings were characteristic of LCAT deficiency, which was confirmed to be due to a mutation that has only been reported in Japan...
  83. ncbi Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency
    J Frohlich
    Department of Pathology, Shaughnessy Hospital, Vancouver, British Columbia
    Metabolism 37:3-8. 1988
    ..However, the low HDL and apo A-I levels are not associated with either a family or personal history of premature atherosclerosis...
  84. ncbi 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
    S Rogne
    Research Institute for Internal Medicine, University of Oslo, Rikshospitalet, Norway
    Biochem Biophys Res Commun 148:161-9. 1987
    ..We have used the cDNA as a probe to analyse the LCAT gene in patients suffering from LCAT deficiency and fish eye disease. No rearrangements or abnormal gene fragments were detected in these patients...
  85. ncbi Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
    R Taramelli
    Dipartimento di Genetica e di Biologia dei Microrganismi, Milan, Italy
    Hum Genet 85:195-9. 1990
    ..The functional significance of such a substitution with respect to the enzyme defect was demonstrated by transfecting the mutated LCAT gene in the cell line COS-1...
  86. ncbi Lipoprotein abnormalities associated with lipopolysaccharide-induced lecithin: cholesterol acyltransferase and lipase deficiency
    B J Auerbach
    Department of Comparative Medicine, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston Salem, North Carolina 27103
    J Biol Chem 264:10264-70. 1989
    ....
  87. ncbi Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype
    Alexis Baass
    Hyperlipidemia and Atherosclerosis Research Group, Clinical Research Institute of Montreal IRCM, Montreal, QC, Canada
    Atherosclerosis 207:452-7. 2009
    ..Our results suggest that a LCAT-/- genotype associated with an APOE epsilon2 allele could be a novel mechanism leading to dysbetalipoproteinemia...
  88. ncbi Apolipoprotein A-I and lecithin:cholesterol acyltransferase transfer induce cholesterol unloading in complex atherosclerotic lesions
    E Van Craeyveld
    Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium
    Gene Ther 16:757-65. 2009
    ..001) and 1.4-fold (P<0.001), respectively. In conclusion, increased HDL cholesterol after AdrA-I and AdrLCAT transfer inhibits progression of atherosclerosis and induces cholesterol unloading in complex lesions in rabbits...
  89. ncbi Lecithin cholesterol acyltransferase deficiency: ultrastructural examination of sequential renal biopsies
    D J Lager
    Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City
    Mod Pathol 4:331-5. 1991
    ..The accumulation of lipid is associated with progressive mesangial and glomerular sclerosis...
  90. ncbi Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
    Erik H Strøm
    Department of Pathology, Oslo University Hospital, Rikshospitalet, Oslo, Norway
    Ultrastruct Pathol 35:139-45. 2011
    ..The morphology of this disease is characteristic, and the diagnosis should be suspected from the ultrastructural findings...
  91. ncbi [Membrane cholesterol and insulin receptor in erythrocytes]
    K Maehara
    Department of Laboratory Medicine, Faculty of Medicine, Kagoshima University
    Fukuoka Igaku Zasshi 82:586-602. 1991
    ..In phospholipid classes, increase of phosphatidylcholine and decreases of both phosphatidylethanolamine and sphingomyelin were observed in the erythrocytes from both patients.(ABSTRACT TRUNCATED AT 400 WORDS)..
  92. ncbi Discoidal complexes containing apolipoprotein E and their transformation by lecithin-cholesterol acyltransferase
    E L Gong
    Lawrence Berkeley Laboratory, University of California, Donner Laboratory, Berkeley 94720
    Biochim Biophys Acta 1006:317-28. 1989
    ..Plasma HDL particles containing apoE may arise in part from direct conversion of discoidal apoE-containing HDL by LCAT...
  93. ncbi Lecithin:cholesterol acyltransferase-induced transformation of HepG2 lipoproteins
    M R McCall
    Donner Laboratory, University of California, Berkeley, CA
    J Lipid Res 30:1579-89. 1989
    ..Chemical analysis indicated that the LDL cholesteryl ester formed was insufficient to account for phospholipid lost, suggesting that LCAT phospholipase activity occurred without concomitant cholesterol esterification...
  94. pmc HIV infection and high density lipoprotein metabolism
    Honor Rose
    Baker Heart Research Institute, Melbourne, Australia
    Atherosclerosis 199:79-86. 2008
    ..Taken together these results suggest that HIV infection is associated with modified HDL metabolism re-directing cholesterol to the apoB-containing lipoproteins and likely reducing the functionality of reverse cholesterol transport...
  95. ncbi Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review
    K Shoji
    Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Yokohama, Japan
    Clin Nephrol 76:323-8. 2011
    ..The present case therefore demonstrates that LCAT deficiency may be caused by factors other than mutations in the coding sequence and we suggest that a translational or posttranslational mechanism may be involved...
  96. ncbi Molecular species of phosphatidylcholine in familial lecithin-cholesterol acyltransferase deficiency: effect of enzyme supplementation
    P V Subbaiah
    Department of Medicine, Rush Medical College, Chicago, IL
    Biochim Biophys Acta 1003:145-50. 1989
    ....
  97. ncbi Familial LCAT deficiency and fish-eye disease
    N McIntyre
    Academic Department of Medicine, Royal Free Hospital and Medical School, London, UK
    J Inherit Metab Dis 11:45-56. 1988
    ....
  98. ncbi Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family
    Barbara Idzior-Walus
    Department of Metabolic Diseases, Medical College, Jagiellonian University, 15 Kopernika Street, 31 501 Krakow, Poland
    Atherosclerosis 185:413-20. 2006
    ..This is the first LCAT mutation described in the Slavic population...
  99. ncbi [Partial lecithin-cholesterol acyltransferase (LCAT) deficiency syndrome]
    F D Brites
    Departamento de Bioquimica Clinica, Facultad de Farmacia y Bioquimica, Universidad de Buenos Aires, Argentina
    Medicina (B Aires) 59:89-92. 1999
    ..It is noteworthy that the patient had experienced cardiac events and presented hypertension, neither of which has been commonly documented in partial LCAT deficiency syndromes...
  100. ncbi Free cholesterol deposition in the cornea of human apolipoprotein A-II transgenic mice with functional lecithin: cholesterol acyltransferase deficiency
    J Julve-Gil
    Servei de Bioquímica and Institut de Recerca, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Metabolism 48:415-21. 1999
    ..1 transgenic mice, but only in those fed a regular chow diet. We conclude that 11.1 human apoA-II transgenic mice may be a useful model for studies of early lipid deposition in the cornea and its possible prevention...
  101. ncbi Rapid electrophoretic separation of pre-beta-migrating high density lipoproteins using automated PhastSystem: application to analysis of lecithin:cholesterol acyltransferase-deficient plasma
    Y Saidi
    Laboratoire des Lipides et Lipoprotéines, Hopital de la Pitie, Paris, France
    Clin Chem Lab Med 36:385-7. 1998
    ..In addition, our procedure was successfully applied to diagnosis of a patient with familial lecithin:cholesterol acyltransferase deficiency, characterized by the absence of alpha-high density lipoproteins...

Research Grants6

  1. CELLULAR BASIS OF ANTIATHEROGENESIS BY APOLIPOPROTEIN E
    Daniel Rader; Fiscal Year: 2001
    ..These studies will provide greater understanding of the role of the local inflammatory response in atherosclerosis and its regulation by apoE. ..
  2. HDL metabolism: Influence of extracellular lipases
    Daniel Rader; Fiscal Year: 2009
    ....
  3. Gordon Research Conference: Lipoprotein Metabolism 2004
    Daniel Rader; Fiscal Year: 2004
    ....
  4. Mentored Career Development in Patient Oriented Research
    Daniel Rader; Fiscal Year: 2006
    ..abstract_text> ..
  5. MECHANISM OF PI-RELATED DYSLIPIDEMIA AND ATHEROSCLEROSIS
    Daniel Rader; Fiscal Year: 2004
    ..These studies will provide novel insights into the mechanisms of PI-associated dyslipidemia and atherosclerosis. ..
  6. HIGH DENSITY LIPOPROTEIN SUBSPECIES AND CORONARY DISEASE
    Bela Asztalos; Fiscal Year: 2003
    ..The investigators state that these studies should provide better understanding about the diagnosis and treatment of HDL deficiency for the prevention of CHD. ..