Atherosclerosis
Volume 194, Issue 2 , Pages e185-e187 , October 2007

H3543Y mutation of apoB-100 in patients with phenotype of familial hypercholesterolemia

  • Zuzana Bašistová

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +421 2 59369386; fax: +421 2 59369366.

Received 25 August 2006

References 

  1. Knott TJ, Pease RJ, Powell LM, et al. Complete protein sequence and identification of structural domains of human apolipoprotein B. Nature. 1986;323:734–738
  2. Blackhart BD, Ludwig EM, Pierotti VR, et al. Structure of apolipoprotein B gene. J Biol Chem. 1986;261(33):15364–15367
  3. Innerarity TL, Weisgraber KH, Arnold KS, et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci USA. 1987;84:6919–6923
  4. Law A, Scott J. A cross-species comparison of the apolipoprotein B domain that binds to the LDL receptor. J Lipid Res. 1990;31:1109–1120
  5. Pullinger CR, Hennessy LK, Chatterton JE, et al. Familial ligand defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest. 1995;95:1225–1234
  6. Gaffney D, Reid JM, Cameron IM, et al. Muatations at Codon 3500 of the Apolipoprotein B Gene are associated with Hyperlipidemia. Ather Thromb Vasc Biol. 1995;15:1025–1029
  7. Rauh G, Keller C, Schuster H, Wolfram G, Zöllner N. Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia. Clin Invest. 1992;70:77–84
  8. Fisher E, Scharnagl H, Hoffmann MM, et al. Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500→Trp) associated with two new haplotypes and evidence That apo B-100 (Glu3405→Gln) diminishes receptor-mediated uptake of LDL. Clin Chem. 1999;45(7):1026–1038
  9. Soufi M, Sattler AM, Maerz W, et al. A new but frequent mutation of apoB-100-apoB His3543Tyr. Atherosclerosis. 2004;174:11–16
  10. Rašlová K, Gašparovič J, Freiberger T. Diagnosis and treatment of familial hypercholesterolemia in Central-Eastern European countries. Atheroscler. Suppl. 2005;6(1):178

PII: S0021-9150(06)00541-7

doi: 10.1016/j.atherosclerosis.2006.08.055

Atherosclerosis
Volume 194, Issue 2 , Pages e185-e187 , October 2007

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