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Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia
Abstract
Abetalipoproteinemia is a human genetic disease that is characterized by a defect in the assembly or secretion of plasma very low density lipoproteins and chylomicrons. The microsomal triglyceride transfer protein (MTP), which is located in the lumen of microsomes isolated from the liver and intestine, has been proposed to function in lipoprotein assembly. MTP activity and the 88-kilodalton component of MTP were present in intestinal biopsy samples from eight control individuals but were absent in four abetalipoproteinemic subjects. This finding suggests that a defect in MTP is the basis for abetalipoproteinemia and that MTP is indeed required for lipoprotein assembly.
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Cited by
van der Veen, J. N., Kennelly, J. P., Wan, S., Vance, J. E., Vance, D. E., & Jacobs, R. L. (2017) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2017.04.006 · Cited by 1,514
Plasma cholesteryl ester transfer protein
Tall, A. (1993) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)36957-1 · Cited by 953
Mouse models in non‐alcoholic fatty liver disease and steatohepatitis research
Anstee, Q. M., & Goldin, R. D. (2006) · International Journal of Experimental Pathology · doi:10.1111/j.0959-9673.2006.00465.x · Cited by 714
Inhibition of microsomal triglyceride transfer protein in familial hypercholesterolemia
Cuchel, M., Bloedon, L. T., Szapary, P. O., Kolansky, D. M., Wolfe, M. L., Sarkis, A., Millar, J. S., Ikewaki, K., Siegelman, E. S., Gregg, R. E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa061189 · Cited by 580
Self-citationRegulation of intestinal lipid metabolism: current concepts and relevance to disease
Ko, C.-W., Qu, J., Black, D. D., & Tso, P. (2020) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0250-7 · Cited by 510
Metadata
- Authors
- 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.
- Venue
- Science
- Published
- 1992-11-06
- Volume
- 258
- Issue
- 5084
- Pages
- 999-1001
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2042381594
- Cited by
- 762
- References
- 0
- FWCI
- 22.03
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia. https://app.cochat.ai/papers/10.1126/science.1439810
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- 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. (1992). Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia. Science. https://doi.org/10.1126/science.1439810
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
