Literature DB >> 1483706

A very conservative region of ApoB-100 in the putative binding region to the LDL receptor in the Toulouse population.

P Avoustin1, H Mostachi, B Perret, J P Cambou, F Cambien, C de Préval.   

Abstract

The nucleotide sequence of the putative binding site of ApoB-100 was studied in Hypercholesterolemic IIa patients and controls from the Toulouse area. Only one patient possesses the 3,500 mutation, which is responsible for defective familial hypercholesterolemia. The other individuals (including 39 patients and 14 controls) display the same nucleotide sequence although four nucleotide substitutions have been described in this region. This homogeneity of the Toulouse population in the putative binding site of ApoB-100 is discussed.

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Year:  1992        PMID: 1483706     DOI: 10.1007/bf00220478

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  13 in total

1.  Structure of apolipoprotein B-100 of human low density lipoproteins.

Authors:  C Y Yang; Z W Gu; S A Weng; T W Kim; S H Chen; H J Pownall; P M Sharp; S W Liu; W H Li; A M Gotto
Journal:  Arteriosclerosis       Date:  1989 Jan-Feb

2.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

3.  Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.

Authors:  U B Gyllensten; H A Erlich
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

4.  In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia.

Authors:  G L Vega; S M Grundy
Journal:  J Clin Invest       Date:  1986-11       Impact factor: 14.808

5.  Molecular genetics of apolipoproteins and coronary heart disease.

Authors:  S Deeb; A Failor; B G Brown; J D Brunzell; J J Albers; A G Motulsky
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1986

6.  Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

Authors:  N Loux; P Benlian; D Pastier; C Boileau; J P Cambou; L Monnier; C Percheron; C Junien
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

7.  Genetic evidence that the putative receptor binding domain of apolipoprotein B (residues 3130 to 3630) is not the only region of the protein involved in interaction with the low density lipoprotein receptor.

Authors:  A M Dunning; R Houlston; J Frostegård; J Revill; J Nilsson; A Hamsten; P Talmud; S Humphries
Journal:  Biochim Biophys Acta       Date:  1991-04-15

8.  Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

Authors:  L F Soria; E H Ludwig; H R Clarke; G L Vega; S M Grundy; B J McCarthy
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205

Review 9.  Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.

Authors:  T L Innerarity; R W Mahley; K H Weisgraber; T P Bersot; R M Krauss; G L Vega; S M Grundy; W Friedl; J Davignon; B J McCarthy
Journal:  J Lipid Res       Date:  1990-08       Impact factor: 5.922

10.  Complete protein sequence and identification of structural domains of human apolipoprotein B.

Authors:  T J Knott; R J Pease; L M Powell; S C Wallis; S C Rall; T L Innerarity; B Blackhart; W H Taylor; Y Marcel; R Milne
Journal:  Nature       Date:  1986 Oct 23-29       Impact factor: 49.962

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  1 in total

1.  Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

Authors:  C R Pullinger; L K Hennessy; J E Chatterton; W Liu; J A Love; C M Mendel; P H Frost; M J Malloy; V N Schumaker; J P Kane
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

  1 in total

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