Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Apolipoprotein A1-Mangel

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.

Gliederung

Apolipoprotein-Mangel
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1-Mangel
APOA1
Apolipoprotein A2-Mangel
Apolipoprotein F-Mangel
Apolipoprotein H-Mangel
CLU

Referenzen:

1.

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.

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2.

Lusis AJ et al. (1983) Genetic control of lipid transport in mice. II. Genes controlling structure of high density lipoproteins.

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3.

Hamidi Asl K et al. (1999) A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis.

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4.

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.

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5.

Shah PK et al. (2001) High-dose recombinant apolipoprotein A-I(milano) mobilizes tissue cholesterol and rapidly reduces plaque lipid and macrophage content in apolipoprotein e-deficient mice. Potential implications for acute plaque stabilization.

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6.

Sadaf A et al. (2002) Apolipoprotein AI promoter variant in blood pressure determination.

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7.

Lachmann HJ et al. (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.

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8.

Martinez LO et al. (2003) Ectopic beta-chain of ATP synthase is an apolipoprotein A-I receptor in hepatic HDL endocytosis.

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9.

Zhang Y et al. (2003) Overexpression of apolipoprotein A-I promotes reverse transport of cholesterol from macrophages to feces in vivo.

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10.

Nissen SE et al. (2003) Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial.

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11.

Soutar AK et al. (1992) Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis.

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12.

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.

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13.

Ajees AA et al. (2006) Crystal structure of human apolipoprotein A-I: insights into its protective effect against cardiovascular diseases.

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14.

Funke H et al. (1991) A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities.

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15.

Matsunaga T et al. (1991) Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

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16.

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.

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17.

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).

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18.

Brewer HB et al. (1978) The amino acid sequence of human APOA-I, an apolipoprotein isolated from high density lipoproteins.

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19.

Ladias JA et al. (1990) Apolipoprotein A1 Baltimore (Arg10----Leu), a new ApoA1 variant.

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20.

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21.

Gustafson A et al. (1979) Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency.

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22.

Moll PP et al. (1989) Genetic determination of plasma apolipoprotein AI in a population-based sample.

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23.

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24.

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25.

Ferns GA et al. (1985) Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction.

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26.

Ferns GA et al. (1986) A DNA polymorphism of the apoprotein AII gene in hypertriglyceridaemia.

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27.

Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias.

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28.

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.

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29.

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30.

Thompson EA et al. (1988) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes.

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31.

Antonarakis SE et al. (1988) DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster.

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32.

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33.

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34.

Frossard PM et al. (1986) ApaI RFLP 5.4 kb 5' to the human apolipoprotein AI (APO A1) gene.

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35.

Cohen T et al. (1986) DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I.

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36.

Haddad IA et al. (1986) Linkage, evolution, and expression of the rat apolipoprotein A-I, C-III, and A-IV genes.

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37.

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.

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38.

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.

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39.

Ordovas JM et al. (1986) Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.

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40.

Moll PP et al. (1986) The genetic determination of plasma apolipoprotein A-I levels measured by radioimmunoassay: a study of high-risk pedigrees.

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41.

Ginsberg HN et al. (1986) Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apolipoprotein CIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo.

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42.

Karathanasis SK et al. (1986) Structure, evolution, and polymorphisms of the human apolipoprotein A4 gene (APOA4).

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43.

Schroeder WT et al. (1987) Localization of the human catalase and apolipoprotein A-I genes to chromosome 11.

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44.

Karathanasis SK et al. (1987) DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis.

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45.

Bojanovski D et al. (1987) In vivo metabolism of proapolipoprotein A-I in Tangier disease.

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46.

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.

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47.

Nichols WC et al. (1988) Variant apolipoprotein AI as a major constituent of a human hereditary amyloid.

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48.

Rall SC et al. (1986) Identification of homozygosity for a human apolipoprotein A-I variant.

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49.

Gualandri V et al. (1985) AIMilano apoprotein identification of the complete kindred and evidence of a dominant genetic transmission.

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50.

Buraczynska M et al. (1985) Apolipoprotein A-I gene polymorphism and susceptibility of non-insulin-dependent diabetes mellitus.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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.

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59.

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60.

Law SW et al. (1983) cDNA cloning of human apoA-I: amino acid sequence of preproapoA-I.

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61.

Shoulders CC et al. (1983) Gene structure of human apolipoprotein A1.

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62.

O'Donnell KA et al. (1983) Genetic evidence that the multiple apolipoprotein A-1 isoforms are encoded by a common structural gene.

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63.

Schamaun O et al. (1983) Genetic studies of an apoA-I lipoprotein variant.

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64.

Karathanasis SK et al. (1983) Isolation and characterization of the human apolipoprotein A-I gene.

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65.

Cheung P et al. (1984) Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11.

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66.

Law SW et al. (1984) Human apolipoprotein A-I and C-III genes reside in the p11----q13 region of chromosome 11.

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67.

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.

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68.

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.

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69.

Utermann G et al. (1984) Apolipoprotein A-IGiessen (Pro143----Arg). A mutant that is defective in activating lecithin:cholesterol acyltransferase.

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70.

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71.

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72.

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73.

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74.

Utermann G et al. (1982) Apolipoprotein AIMarburg: studies on two kindreds with a mutant of human apolipoprotein AI.

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75.

Glueck CJ et al. (1982) Pediatric victims of unexplained stroke and their families: familial lipid and lipoprotein abnormalities.

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76.

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77.

Daniels SR et al. () Cerebrovascular arteriopathy (arteriosclerosis) and ischemic childhood stroke.

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78.

Utermann G et al. (1982) Genetic variants of group A apolipoproteins. Rapid methods for screening and characterization without ultracentrifugation.

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79.

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80.

Fager G et al. () Multivariate analyses of serum apolipoproteins and risk factors in relation to acute myocardial infarction.

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81.

Franceschini G et al. (1980) A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family.

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82.

Nakata K et al. (1993) Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.

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83.

Ng DS et al. (1994) Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.

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84.

Plump AS et al. (1996) Apolipoprotein A-I is required for cholesteryl ester accumulation in steroidogenic cells and for normal adrenal steroid production.

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85.

Booth DR et al. (1996) Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

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86.

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.

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87.

Naganawa S et al. (1997) Intestinal transcription and synthesis of apolipoprotein AI is regulated by five natural polymorphisms upstream of the apolipoprotein CIII gene.

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88.

Huang W et al. (1998) A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency.

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89.

Genschel J et al. (1998) Apolipoprotein A-I induced amyloidosis.

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90.

Hamidi Asl L et al. (1999) Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

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91.

Yamakawa-Kobayashi K et al. (1999) Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey.

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