Journal of Clinical Lipidology
Volume 4, Issue 3 , Pages 181-184 , May 2010

New mutations in APOB100 involved in familial hypobetalipoproteinemia

  • Klaus Brusgaard, MSc, PhD

      Affiliations

    • Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK–5000 Odense C, Denmark
    • Corresponding Author InformationCorresponding author.
    • ,
  • Lars Kjaersgaard, MD, PhD

      Affiliations

    • Hans Christian Andersen Children's Hospital
    • ,
  • Anne-Birthe Bo Hansen, MD, PhD

      Affiliations

    • Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK–5000 Odense C, Denmark
    • ,
  • Steffen Husby, MD, PhD

      Affiliations

    • Hans Christian Andersen Children's Hospital

Received 14 December 2009 ,Accepted 16 February 2010.

References 

  1. Burnett JR, Shan J, Miskie BA, Whitfield AJ, et al. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem. 2003;11:13442–13452
  2. Young SG. Recent progress in understanding apolipoprotein B. Circulation. 1990;82:1574–1594
  3. Clarke MW, Hooper AJ, Headlam HA, Wu JHY, Croft KD, Burnett JR. Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia. Clin Chem. 2006;52:1339–1345
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  9. Burnett JR, Zhong S, Jiang ZG, et al. Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia. J Biol Chem. 2007;17:24270–24283
  10. Burnett JR, Shan J, Miskie BA, et al. A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia. J Biol Chem. 2003;11:278:13442–13452
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  12. Tarugi P, Averna M, Di Leo E, et al. Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis. 2007;195:e19–e27
  13. Benn M. Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review. Atherosclerosis. 2009;206:17–30
  14. Lee PH, Shatkay H. F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic Acids Res. 2008;36:D820–D824
  15. Prassl R, Laggner P. Molecular structure of low density lipoprotein: current status and future challenges. Eur Biophys J. 2009;38:145–158
  16. Garnier J, Osguthorpe DJ, Robson B. Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins. J Mol Biol. 1978;120:97–120
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PII: S1933-2874(10)00056-5

doi: 10.1016/j.jacl.2010.02.009

Journal of Clinical Lipidology
Volume 4, Issue 3 , Pages 181-184 , May 2010

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