Der Apolipoprotein A1-Mangel ist laborchemisch anhand des Fehlens dieses Proteins im Plasma nachweisbar. Klinisch besteht eine Hypoalphalipoproteinämie mit einem entsprechend erhöhten Risiko für arteriosklerotische Gefäßerkrankungen.
![]() |
||||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() |
|||
![]() |
![]() |
![]() ![]() |
||
![]() |
![]() |
|||
![]() |
![]() |
|||
![]() |
![]() |
|||
![]() |
![]() ![]() |
|||
![]() |
![]() |
![]() |
![]() |
![]() |
1. |
Karathanasis SK et al. () Linkage of human apolipoproteins A-I and C-III genes. ![]() |
2. |
Protter AA et al. (1984) Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the apo AI and apo CIII genes. ![]() |
3. |
Rall SC et al. (1984) Abnormal lecithin:cholesterol acyltransferase activation by a human apolipoprotein A-I variant in which a single lysine residue is deleted. ![]() |
4. |
Law SW et al. (1984) Human apolipoprotein A-I and C-III genes reside in the p11----q13 region of chromosome 11. ![]() |
5. |
Cheung P et al. (1984) Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11. ![]() |
6. |
Karathanasis SK et al. (1983) Isolation and characterization of the human apolipoprotein A-I gene. ![]() |
7. |
Schamaun O et al. (1983) Genetic studies of an apoA-I lipoprotein variant. ![]() |
8. |
O'Donnell KA et al. (1983) Genetic evidence that the multiple apolipoprotein A-1 isoforms are encoded by a common structural gene. ![]() |
9. |
Shoulders CC et al. (1983) Gene structure of human apolipoprotein A1. ![]() |
10. |
Law SW et al. (1983) cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I. ![]() |
11. |
Karathanasis SK et al. (1983) An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis. ![]() |
12. |
Weisgraber KH et al. (1983) Apolipoprotein A-IMilano. Detection of normal A-I in affected subjects and evidence for a cysteine for arginine substitution in the variant A-I. ![]() |
13. |
Utermann G et al. (1984) Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase. ![]() |
14. |
Breslow JL et al. (1982) Isolation and characterization of cDNA clones for human apolipoprotein A-I. ![]() |
15. |
Botstein D et al. (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. ![]() |
16. |
Law SW et al. (1984) Nucleotide sequence and the encoded amino acids of human apolipoprotein A-I mRNA. ![]() |
17. |
Rees A et al. (1983) DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia. ![]() |
18. |
Miller GJ et al. (1975) Plasma-high-density-lipoprotein concentration and development of ischaemic heart-disease. ![]() |
19. |
Borecki IB et al. (1986) A major gene for primary hypoalphalipoproteinemia. ![]() |
20. |
Buraczynska M et al. (1985) Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus. ![]() |
21. |
Gualandri V et al. (1985) AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission. ![]() |
22. |
Rall SC et al. (1986) Identification of homozygosity for a human apolipoprotein A-I variant. ![]() |
23. |
Nichols WC et al. (1988) Variant apolipoprotein AI as a major constituent of a human hereditary amyloid. ![]() |
24. |
Fager G et al. () Multivariate analyses of serum apolipoproteins and risk factors in relation to acute myocardial infarction. ![]() |
25. |
Yamakawa-Kobayashi K et al. (1999) Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey. ![]() |
26. |
Hamidi Asl L et al. (1999) Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. ![]() |
27. |
Genschel J et al. (1998) Apolipoprotein A-I induced amyloidosis. ![]() |
28. |
Huang W et al. (1998) A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. ![]() |
29. |
Naganawa S et al. (1997) Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene. ![]() |
30. |
Dallinga-Thie GM et al. (1997) Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. ![]() |
31. |
Booth DR et al. (1996) Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. ![]() |
32. |
Plump AS et al. (1996) Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production. ![]() |
33. |
Ng DS et al. (1994) Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. ![]() |
34. |
Nakata K et al. (1993) Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. ![]() |
36. |
Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins. ![]() |
37. |
Vergani C et al. (1981) Familial hypo-alpha-lipoproteinemia. ![]() |
38. |
Utermann G et al. (1982) Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation. ![]() |
39. |
Daniels SR et al. () Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke. ![]() |
40. |
Norum RA et al. (1982) Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease. ![]() |
41. |
Glueck CJ et al. (1982) Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities. ![]() |
42. |
Utermann G et al. (1982) Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI. ![]() |
43. |
Schaefer EJ et al. () Plasma apolipoprotein A-1 absence associated with a marked reduction of high density lipoproteins and premature coronary artery disease. ![]() |
44. |
Weisgraber KH et al. (1980) A-Imilano apoprotein. Isolation and characterization of a cysteine-containing variant of the A-I apoprotein from human high density lipoproteins. ![]() |
45. |
Third JL et al. (1984) Primary and familial hypoalphalipoproteinemia. ![]() |
47. |
Smith JD et al. (1992) Polymorphism in the human apolipoprotein A-I gene promoter region. Association of the minor allele with decreased production rate in vivo and promoter activity in vitro. ![]() |
48. |
Ordovas JM et al. (1989) Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11. ![]() |
49. |
Moll PP et al. (1989) Genetic determination of plasma apolipoprotein AI in a population-based sample. ![]() |
50. |
Gustafson A et al. (1979) Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency. ![]() |
51. |
Nichols WC et al. (1990) A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. ![]() |
52. |
Ladias JA et al. (1990) Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant. ![]() |
53. |
Brewer HB et al. (1978) The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins. ![]() |
54. |
Arinami T et al. (1990) Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3----qter). ![]() |
55. |
Kastelein JJ et al. (1990) The gene causing familial hypoalphalipoproteinemia is not caused by a defect in the apo AI-CIII-AIV gene cluster in a Spanish family. ![]() |
56. |
Matsunaga T et al. (1991) Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. ![]() |
58. |
Ajees AA et al. (2006) Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases. ![]() |
59. |
Bojanovski D et al. (1987) In vivo metabolism of proapolipoprotein A-I in Tangier disease. ![]() |
60. |
Soutar AK et al. (1992) Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. ![]() |
61. |
Nissen SE et al. (2003) Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. ![]() |
62. |
Zhang Y et al. (2003) Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo. ![]() |
63. |
Martinez LO et al. (2003) Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis. ![]() |
64. |
Sadaf A et al. (2002) Apolipoprotein AI promoter variant in blood pressure determination. ![]() |
66. |
Obici L et al. (1999) The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. ![]() |
67. |
Hamidi Asl K et al. (1999) A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. ![]() |
68. |
Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. ![]() |
69. |
Kessling AM et al. (1988) DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration. ![]() |
70. |
Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction. ![]() |
71. |
Strobl W et al. (1988) Apolipoprotein A-I (Glu 198----Lys): a mutant of the major apolipoprotein of high-density lipoproteins occurring in a family with dyslipoproteinemia. ![]() |
72. |
Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. ![]() |
73. |
Schroeder WT et al. (1987) Localization of the human catalase and apolipoprotein A-I genes to chromosome 11. ![]() |
74. |
Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4). ![]() |
76. |
Moll PP et al. (1986) The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees. ![]() |
77. |
Ordovas JM et al. (1986) Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. ![]() |
78. |
Rees A et al. (1986) Haplotypes identified by DNA polymorphisms at the apolipoprotein A-1 and C-III loci and hypertriglyceridaemia. A study in a Japanese population. ![]() |
79. |
Yui Y et al. (1988) Serum prostacyclin stabilizing factor is identical to apolipoprotein A-I (Apo A-I). A novel function of Apo A-I. ![]() |
80. |
Haddad IA et al. (1986) Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes. ![]() |
81. |
Cohen T et al. (1986) DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. ![]() |
82. |
Frossard PM et al. (1986) ApaI RFLP 5.4 kb 5' to the human apolipoprotein AI (APO A1) gene. ![]() |
83. |
Kessling AM et al. (1985) A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals. ![]() |
84. |
Rees A et al. (1985) Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia. ![]() |
85. |
Antonarakis SE et al. (1988) DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster. ![]() |
86. |
Thompson EA et al. (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. ![]() |
87. |
None (1988) Apolipoprotein genetic variation and human disease. ![]() |
88. |
Stocks J et al. (1987) Haplotypes identified by DNA restriction-fragment-length polymorphisms in the A-1 C-III A-IV gene region and hypertriglyceridemia. ![]() |
89. |
Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. ![]() |
90. |
Ferns GA et al. (1986) A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia. ![]() |
91. |
von Eckardstein A et al. (1989) Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I. ![]() |
92. |
OMIM.ORG article Omim 107680![]() |