The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Abetalipoproteinemia


High impact information on Abetalipoproteinemia


Chemical compound and disease context of Abetalipoproteinemia

  • High density lipoprotein (HDL) and whole serum from a patient with abetalipoproteinemia (neither of which contains a component that binds to the LDL receptor) did not produce a significant increase in the content of either cholesterol or cholesteryl esters in normal cells [11].
  • Plasma levels of high density lipoprotein lipids and proteins were low, and the phosphatidylcholine/sphingomyelin ratio was reduced as in typical abetalipoproteinemia [12].
  • The mechanisms for the increased sterol synthesis in abetalipoproteinemia may relate to the absence of chylomicrons and low density lipoproteins in plasma, but the magnitude of the increase can be largely explained on the basis of enhanced sterol losses that occur secondary to malabsorption of biliary cholesterol [13].
  • In contrast, despite the translocation of apolipoprotein B48 into the endoplasmic reticulum in patients with abetalipoproteinemia and in biopsies treated with Brefeldin A, which blocks anterograde transport between the endoplasmic reticulum and the Golgi network, there was no transformation of endoglycosidase H-sensitive oligosaccharides [14].
  • An in vivo situation analogous to that of corpus luteum grown in LDL-depleted media exists naturally in patients with abetalipoproteinemia [15].

Biological context of Abetalipoproteinemia


Anatomical context of Abetalipoproteinemia


Gene context of Abetalipoproteinemia


Analytical, diagnostic and therapeutic context of Abetalipoproteinemia


  1. Hepatic peroxisomal abnormalities in abetalipoproteinemia. Collins, J.C., Scheinberg, I.H., Giblin, D.R., Sternlieb, I. Gastroenterology (1989) [Pubmed]
  2. Lipoproteins alter the catalytic behavior of the platelet-activating factor acetylhydrolase in human plasma. Stafforini, D.M., Carter, M.E., Zimmerman, G.A., McIntyre, T.M., Prescott, S.M. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  3. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. Aguglia, U., Annesi, G., Pasquinelli, G., Spadafora, P., Gambardella, A., Annesi, F., Pasqua, A.A., Cavalcanti, F., Crescibene, L., Bagalà, A., Bono, F., Oliveri, R.L., Valentino, P., Zappia, M., Quattrone, A. Ann. Neurol. (2000) [Pubmed]
  4. The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Berriot-Varoqueaux, N., Aggerbeck, L.P., Samson-Bouma, M., Wetterau, J.R. Annu. Rev. Nutr. (2000) [Pubmed]
  5. Compensatory increase in hepatic lipogenesis in mice with conditional intestine-specific Mttp deficiency. Xie, Y., Newberry, E.P., Young, S.G., Robine, S., Hamilton, R.L., Wong, J.S., Luo, J., Kennedy, S., Davidson, N.O. J. Biol. Chem. (2006) [Pubmed]
  6. An MTP inhibitor that normalizes atherogenic lipoprotein levels in WHHL rabbits. Wetterau, J.R., Gregg, R.E., Harrity, T.W., Arbeeny, C., Cap, M., Connolly, F., Chu, C.H., George, R.J., Gordon, D.A., Jamil, H., Jolibois, K.G., Kunselman, L.K., Lan, S.J., Maccagnan, T.J., Ricci, B., Yan, M., Young, D., Chen, Y., Fryszman, O.M., Logan, J.V., Musial, C.L., Poss, M.A., Robl, J.A., Simpkins, L.M., Slusarchyk, W.A., Sulsky, R., Taunk, P., Magnin, D.R., Tino, J.A., Lawrence, R.M., Dickson, J.K., Biller, S.A. Science (1998) [Pubmed]
  7. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Wetterau, J.R., Aggerbeck, L.P., Bouma, M.E., Eisenberg, C., Munck, A., Hermier, M., Schmitz, J., Gay, G., Rader, D.J., Gregg, R.E. Science (1992) [Pubmed]
  8. Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. Rader, D.J., Brewer, H.B. JAMA (1993) [Pubmed]
  9. Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice. Raabe, M., Véniant, M.M., Sullivan, M.A., Zlot, C.H., Björkegren, J., Nielsen, L.B., Wong, J.S., Hamilton, R.L., Young, S.G. J. Clin. Invest. (1999) [Pubmed]
  10. Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia. Hardman, D.A., Pullinger, C.R., Hamilton, R.L., Kane, J.P., Malloy, M.J. J. Clin. Invest. (1991) [Pubmed]
  11. Role of the low density lipoprotein receptor in regulating the content of free and esterified cholesterol in human fibroblasts. Brown, M.S., Faust, J.R., Goldstein, J.L. J. Clin. Invest. (1975) [Pubmed]
  12. Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis. Herbert, P.N., Hyams, J.S., Bernier, D.N., Berman, M.M., Saritelli, A.L., Lynch, K.M., Nichols, A.V., Forte, T.M. J. Clin. Invest. (1985) [Pubmed]
  13. Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients. Illingworth, D.R., Connor, W.E., Lin, D.S., Diliberti, J. Gastroenterology (1980) [Pubmed]
  14. Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease. Berriot-Varoqueaux, N., Dannoura, A.H., Moreau, A., Verthier, N., Sassolas, A., Cadiot, G., Lachaux, A., Munck, A., Schmitz, J., Aggerbeck, L.P., Samson-Bouma, M.E. Gastroenterology (2001) [Pubmed]
  15. Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia. Illingworth, D.R., Corbin, D.K., Kemp, E.D., Keenan, E.J. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  16. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. Rehberg, E.F., Samson-Bouma, M.E., Kienzle, B., Blinderman, L., Jamil, H., Wetterau, J.R., Aggerbeck, L.P., Gordon, D.A. J. Biol. Chem. (1996) [Pubmed]
  17. Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. Granot, E., Kohen, R. Am. J. Clin. Nutr. (2004) [Pubmed]
  18. The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. Hagemenas, F.C., Illingworth, D.R. Atherosclerosis (1987) [Pubmed]
  19. Platelet function in a case with abetalipoproteinemia. Aviram, M., Deckelbaum, R.J., Brook, J.G. Atherosclerosis (1985) [Pubmed]
  20. Chinese hamster ovary cells require the coexpression of microsomal triglyceride transfer protein and cholesterol 7alpha-hydroxylase for the assembly and secretion of apolipoprotein B-containing lipoproteins. Fleming, J.F., Spitsen, G.M., Hui, T.Y., Olivier, L., Du, E.Z., Raabe, M., Davis, R.A. J. Biol. Chem. (1999) [Pubmed]
  21. Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy. Weleber, R.G., Kurz, D.E., Trzupek, K.M. Ophthalmology clinics of North America. (2003) [Pubmed]
  22. Mouse microsomal triglyceride transfer protein large subunit: cDNA cloning, tissue-specific expression and chromosomal localization. Nakamuta, M., Chang, B.H., Hoogeveen, R., Li, W.H., Chan, L. Genomics (1996) [Pubmed]
  23. Lipoprotein lipase and hepatic lipase activity after heparin administration in abetalipoproteinemia and hypobetalipoproteinemia. Illingworth, D.R., Alam, S.S., Alam, N.A. Metab. Clin. Exp. (1983) [Pubmed]
  24. Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. Ohashi, K., Ishibashi, S., Osuga, J., Tozawa, R., Harada, K., Yahagi, N., Shionoiri, F., Iizuka, Y., Tamura, Y., Nagai, R., Illingworth, D.R., Gotoda, T., Yamada, N. J. Lipid Res. (2000) [Pubmed]
  25. Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia. Illingworth, D.R., Alam, N.A., Sundberg, E.E., Hagemenas, F.C., Layman, D.L. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  26. High bioavailabilty of alpha-tocopherol loaded into poly (DL-lactic-co-glycolic acid) microspheres in apolipoprotein B knockout mice. Yokogawa, K., Shima, Y., Hashimoto, T., Hiyajyo, M., Kadoyama, K., Ishizaki, J., Nomura, M., Miyamoto, K. Pharm. Res. (2003) [Pubmed]
  27. Gene therapy for dyslipidemia: clinical prospects. Rader, D.J., Tietge, U.J. Current atherosclerosis reports. (1999) [Pubmed]
WikiGenes - Universities