MeSH Review:
Abetalipoproteinemia
Granot,
Kohen,
Berriot-Varoqueaux,
Aggerbeck,
Samson-Bouma,
Wetterau,
Wetterau,
Gregg,
Harrity,
Arbeeny,
Cap,
Connolly,
Chu,
George,
Gordon,
Jamil,
Jolibois,
Kunselman,
Lan,
Maccagnan,
Ricci,
Yan,
Young,
Chen,
Fryszman,
Logan,
Musial,
Poss,
Robl,
Simpkins,
Slusarchyk,
Sulsky,
Taunk,
Magnin,
Tino,
Lawrence,
Dickson,
Biller,
Weleber,
Kurz,
Trzupek,
- Hepatic peroxisomal abnormalities in abetalipoproteinemia. Collins, J.C., Scheinberg, I.H., Giblin, D.R., Sternlieb, I. Gastroenterology (1989)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease. Rader, D.J., Brewer, H.B. JAMA (1993)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation. Granot, E., Kohen, R. Am. J. Clin. Nutr. (2004)
- The influence of plasma lipoproteins from patients with abetalipoproteinemia on cellular cholesterol esterification. Hagemenas, F.C., Illingworth, D.R. Atherosclerosis (1987)
- Platelet function in a case with abetalipoproteinemia. Aviram, M., Deckelbaum, R.J., Brook, J.G. Atherosclerosis (1985)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Gene therapy for dyslipidemia: clinical prospects. Rader, D.J., Tietge, U.J. Current atherosclerosis reports. (1999)