Lecithin:cholesterol acyl transferase G30S: Association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

Clinical Biochemistry

Volumn 34, Issue 5, 2001, Pages 381-386

  Rosset, Jennifer ^a   Wang, Jian ^a   Wolfe, Bernard M ^b   Dolphin, Peter J ^c   Hegele, Robert A ^a,b  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

^c DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Atherosclerosis; Complex traits; Reverse cholesterol transport

Indexed keywords

APOLIPOPROTEIN A1; HIGH DENSITY LIPOPROTEIN; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE;

AGED; ANALYTIC METHOD; ARTICLE; ATHEROSCLEROSIS; BLOOD CHEMISTRY; CASE REPORT; CONTROLLED STUDY; CORONARY ARTERY BYPASS GRAFT; DISEASE ASSOCIATION; DNA SEQUENCE; ENZYME ACTIVITY; FAMILY HISTORY; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOLIPOPROTEINEMIA; ISCHEMIC HEART DISEASE; LIPOPROTEIN BLOOD LEVEL; MALE; PLASMA; PRIORITY JOURNAL;

AGED; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN A-I; ARTERIOSCLEROSIS; CHOLESTEROL, HDL; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HETEROZYGOTE; HUMANS; MALE; MUTATION; PHOSPHATIDYLCHOLINE-STEROL O-ACYLTRANSFERASE; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA; TANGIER DISEASE;

EID: 0034883025     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(01)00231-4     Document Type: Article

References (52)

1. Expression of human lecithin:cholesterol acyltransferase in transgenic mice: Effects on cholesterol efflux, esterification, and transport
2. Fish eye syndrome: A molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal α-LCAT-specific activity, implications for classification and prognosis
3. The mechanism of the plasma cholesterol esterification reaction: Plasma fatty acid transferase
4. The plasma lecithin:cholesterol acyltransferase reaction
5. Reverse cholesterol transport: Its contribution to cholesterol catabolism in normal and disease states
6. Differential effect of subspecies of lipoprotein containing apolipoprotein A-I on cholesterol efflux from cholesterol-loaded macrophages: Functional correlation with lecithin:cholesterol acyltransferase
7. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
8. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
9. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
10. Lecithin-cholesterol acyltransferase in the metabolism of high-density lipoproteins
11. Plasma cholesteryl ester transfer protein and high-density lipoproteins: New insights from molecular genetic studies
12. Atheroprotective mechanisms of HDL
13. The antiatherogenic role of high-density lipoprotein cholesterol
14. Fish eye disease and LCAT-deficiency, extremes of one phenotype. A novel LCAT-mutation in a large family of Dutch descent
15. A unique genetic, and biochemical presentation of fish-eye disease
16. Two molecular defects in the LCAT gene are associated with fish eye disease
17. An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
18. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
19. Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: A single nucleotide insertion in LCAT gene causes a complete deficient type of the disease
20. A molecular defect causing fish eye disease: An amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of α-LCAT activity
21. 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
22. 171→Stop)
23. Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
24. Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent
25. Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency
26. Lecithin:cholesterol acyltransferase deficiency: Identification of two defective alleles in fibroblast cDNA
27. Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene
28. Catalytically inactive lecithin:cholesterol acyltransferase (LCAT) caused by a Gly 30 to Ser mutation in a family with LCAT deficiency
29. Familial lecithin:cholesterol acyltransferase deficiency, including fish eye disease
30. Lecithin-cholesterol-acyltransferase deficiency: Autosomal recessive transmission in a large kindred
31. Familial lecithin:cholesterol acyltransferase deficiency - A clinical survey
32. Familial LCAT deficiency: Report of two patients from a Canadian family of Italian, and Swedish descent
33. Effects of plasma infusion on plasma lipids, apoproteins and plasma enzyme activities in familial lecithin:cholesterol acyltransferase deficiency
34. Micellar complexes of human apolipoprotein A-I with phosphatidylcholines and cholesterol prepared from cholate-lipid dispersions
35. Human plasma lecithin-cholesterol acyltransferase: An elucidation of the catalytic mechanism
36. Genetic control of lecithin-cholesterol acyltransferase (LCAT): Measurement of LCAT mass in a large kindred with LCAT deficiency
37. Detection of heterozygotes for familial lecithin:cholesterol acyltransferase (LCAT) deficiency
38. Familial lecithin-cholesterol acyltransferase: Identification of heterozygotes with half-normal enzyme activity and mass
39. Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: Evidence for functionally defective enzyme in homozygotes and obligate heterozygotes
40. Corneal opacification and lecithin-cholesterol acyltransferase (LCAT) deficiency: A case report
41. Fish eye disease: A new familial condition with massive corneal opacities and dyslipoproteinaemia - Clinical and laboratory studies in two afflicted families
42. Fish-eye disease: A new familial condition with massive corneal opacities, and dyslipoproteinemia
43. Lecithin:cholesterol acyltransferase deficiency, and fish-eye disease
44. Familial lecithin:cholesterol acyltransferase deficiency: Studies on lipid composition and morphology of tissues
45. A new case of familial LCAT deficiency
46. Free cholesterol concentrations in the high-density lipoprotein subfraction-3 as a risk indicator in patients with angiographically documented coronary artery disease
47. Transgenic rabbits as models for atherosclerosis research
48. Disruption of the murine lecithin:cholesterol acyltransferase gene causes impairment of adrenal lipid delivery and up-regulation of scavenger receptor class B type I
49. The basic apolipoprotein in the patients with familial lecithin:cholesterol acyltransferase deficiency
50. 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
51. Lipoproteins containing apolipoprotein A-IV but not apolipoprotein A-I take up and esterify cell-derived cholesterol in plasma
52. Apolipoprotein A-1 Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia