Skip to main content
Have a personal or library account? Click to login
Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report Cover

Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report

Balkan Journal of Medical Genetics
Volume 13 (2010): Issue 2 (December 2010)
By: ,  ,  ,   and    
Open Access
|Jan 2011
References

References

  1. Linton MF, Farese RV Jr, Young SG. Familial hypobetalipoproteinemia. J Lipid Res. 1993; 34(4): 521-541.
    Open DOISearch in Google Scholar
  2. Tarugi P, Averna M, Di Leo E, Cefalu AB, Noto D, Magnolo L, Cattin L, Bertolini S, Calandra S. (Author: all authors must be cited) Molecular diagnosis of hypobetalipoproteinemia: an ENID review. Atherosclerosis. 2007; 195(2): e19-27.
    Open DOISearch in Google Scholar
  3. Burnett JR, Hooper AJ. Common and rare gene variants affecting plasma LDL cholesterol. Clin Biochem Rev. 2008; 29(1): 11-26.
    Search in Google Scholar
  4. Whitfield AJ, Barrett PH, van Bockxmeer FM, Burnett JR. Lipid disorders and mutations in the APOB gene. Clin Chem. 2004; 50(10): 1725-1732.
    Open DOISearch in Google Scholar
  5. Olofsson SO, Wiklund O, Boren J. Apolipoproteins A-I and B: biosynthesis, role in the development of atherosclerosis and targets for intervention against cardiovascular disease. Vasc Health Risk Manag. 2007; 3(4): 491-502.
    Search in Google Scholar
  6. Schonfeld G. Familial hypobetalipoproteinemia: a review. J Lipid Res. 2003; 44(5): 878-883.
    Open DOISearch in Google Scholar
  7. Schonfeld G, Lin X, Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci. 2005; 62(12): 1372-1378.
    Open DOISearch in Google Scholar
  8. Elias N, Patterson BW, Schonfeld G. Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol. 1999; 19(11): 2714-2721.
    Open DOISearch in Google Scholar
  9. Hooper AJ, van Bockxmeer FM, Burnett JR. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci. 2005; 42(5-6): 515-545.
    Open DOISearch in Google Scholar
  10. Amaro A, Fabbrini E, Kars M, Yue P, Schechtman K, Schonfeld G, Klein S. (Author: all authors must be cited) Dissociation between intrahepatic triglyceride content and insulin resistance in familial hypobetalipoproteinemia. Gastroenterology. 2010; [Epub ahead of print].
    Open DOISearch in Google Scholar
  11. Sankatsing R, Fouchier S, de Haan S, Hutten B, de Groot E, Kastelein J, Stroes ES. Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia. Arterioscler Thromb Vasc Biol. 2005; 25(9): 1979-1984.
    Open DOISearch in Google Scholar
  12. Cohen J, Boerwinkle E, Mosley TJ, Hobbs H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006; 354(12): 1264-1272.
    Open DOISearch in Google Scholar
  13. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning. A Laboratory Manual. Cold Spring Arbor: Cold Spring Laboratory; 1989.
    Search in Google Scholar
  14. Knott T, Wallis S, Powell L, Pease R, Lusis A, Blackhart B, McCarthy BJ, Mahley RW, Levy-Wilson B, Scott J. Complete cDNA and derived protein sequence of human apolipoprotein B-100. Nucleic Acids Res. 1986; 14(18): 7501-7503.
    Open DOISearch in Google Scholar
  15. Tarugi P, Lonardo A, Ballarini G, Erspamer L, Tondelli E, Bertolini S, Calandra S. A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5). J Hepatol. 2000; 33(3): 361-370.
    Open DOISearch in Google Scholar
  16. Tanoli T, Yue P, Yablonskiy D, Schonfeld G. Fatty liver in familial hypobetalipoproteinemia: roles of the APOB defects, intra-abdominal adipose tissue, and insulin sensitivity. J Lipid Res. 2004; 45(5): 941-947.
    Open DOISearch in Google Scholar
  17. Grundy SM. Metabolic syndrome: connecting and reconciling cardiovascular and diabetes worlds. J Am Coll Cardiol. 2006; 47(6): 1093-1100.
    Open DOISearch in Google Scholar
  18. Alberti KG, Zimmet P, Shaw J. The metabolic syndrome — a new worldwide definition. Lancet. 2005; 366(9491): 1059-1062.
    Open DOISearch in Google Scholar
  19. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001; 285(19): 2486-2497.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.2478/v10034-010-0029-1 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Journal RSS Feed
Language: English
Page range: 65 - 69
Published on: Jan 20, 2011
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Apolipoprotein B (Apo-B),
Genetic mutation,
Familial hypobetalipoproteinemia (FHBL),
Metabolic Syndrome (MS)
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2011 M Bove, L Carnevali, A Cicero, P Tarugi, A Gaddi, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 13 (2010): Issue 2 (December 2010)
Previous article
Next article