Type III Hyperlipoproteinemia Associated with Apolipoprotein E Deficiency
Abstract
Subjects with type III hyperlipoproteinemia develop premature atherosclerosis and have hyperlipidemia due to an increase in cholesterol-rich very low density lipoproteins (VLDL) of abnormal electrophoretic mobility. Apolipoprotein E is a major protein constituent of VLDL and appears to be important for the hepatic uptake of triglyceride-rich lipoproteins. A new kindred of patients with type III hyperlipoproteinemia is described in which no plasma apolipoprotein E could be detected, consistent with the concept that type III hyperlipoproteinemia may be due to an absence or striking deficiency of apolipoprotein E.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Individual cases of type III have been observed with the apo E-3/3 phenotype and with apo E deficiency.
“Individual cases of type III have also been observed in association with the apo E-3/3 phenotype (9) and in an individual with a deficiency of apo E (10).”
From Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. (1987) · cites this paper as [10]
Cases of apoE deficiency have been reported, but none included neurocognitive or retinal function studies.
“Cases of apoE deficiency have been reported,4-9 but none included neurocognitive or retinal function studies.”
From Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function (2014) · cites this paper as [4]
The increased amounts of apoA-IV in VLDL and IDL observed in the patient were also seen in other reports of apoE deficiency and in apoE-deficient mice.
“The increased amounts of apoA-IV in VLDL and IDL we observed were seen in other reports of apoE deficiency4,5,9 and in apoE-deficient mice.31”
From Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function (2014) · cites this paper as [4]
Cited by
Sorted by citations
Apolipoprotein E: Cholesterol Transport Protein with Expanding Role in Cell Biology
Mahley, R. W. (1988) · Science · doi:10.1126/science.3283935 · Cited by 4,028 · see citing works
Plump, A. S., Smith, J. D., Hayek, T., Aalto-Setälä, K., Walsh, A., Verstuyft, J. G., Rubin, E. M., & Breslow, J. L. (1992) · Cell · doi:10.1016/0092-8674(92)90362-g · Cited by 2,263 · see citing works
Piedrahita, J. A., Zhang, S. H., Hagaman, J. R., Oliver, P. M., & Maeda, N. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4471 · Cited by 944 · see citing works
Mahley, R. W., & Ji, Z.-S. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)33334-4 · Cited by 693 · see citing works
A Quarter Century of APOE and Alzheimer’s Disease: Progress to Date and the Path Forward
Belloy, M. E., Napolioni, V., & Greicius, M. D. (2019) · Neuron · doi:10.1016/j.neuron.2019.01.056 · Cited by 570 · see citing works
Lipoprotein receptors in the liver. Control signals for plasma cholesterol traffic.
Brown, M. S., & Goldstein, J. L. (1983) · Journal of Clinical Investigation · doi:10.1172/jci111044 · Cited by 545 · see citing works
Sacks, F. M., Alaupovic, P., Moye, L. A., Cole, T. G., Sussex, B., Stampfer, M. J., Pfeffer, M. A., & Braunwald, E. (2000) · Circulation · doi:10.1161/01.cir.102.16.1886 · Cited by 490 · see citing works
Mahley, R. W., Huang, Y., & Rall, S. C. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)32417-2 · Cited by 447 · see citing works
Apolipoprotein E polymorphism in health and disease
Utermann, G. (1987) · American Heart Journal · doi:10.1016/0002-8703(87)90610-7 · Cited by 389 · see citing works
Familial apolipoprotein E deficiency.
Schaefer, E. J., Gregg, R. E., Ghiselli, G., Forte, T. M., Ordovas, J. M., Zech, L. A., & Brewer, H. B. (1986) · Journal of Clinical Investigation · doi:10.1172/jci112704 · Cited by 313 · see citing works
Self-citationIdentification of disease treatment mechanisms through the multiscale interactome
Ruiz, C., Zitnik, M., & Leskovec, J. (2021) · Nature Communications · doi:10.1038/s41467-021-21770-8 · Cited by 172 · see citing works
Wardell, M. R., Brennan, S. O., Janus, E. D., Fraser, R., & Carrell, R. W. (1987) · Journal of Clinical Investigation · doi:10.1172/jci113096 · Cited by 159 · see citing works
Rasmussen, K. L. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.10.037 · Cited by 125 · see citing works
Mak, A. C. Y., Pullinger, C. R., Tang, L. F., Wong, J. S., Deo, R. C., Schwarz, J.-M., Gugliucci, A., Movsesyan, I., Ishida, B. Y., Chu, C., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.2011 · Cited by 96 · see citing works
Self-citationVan Eck, M., Herijgers, N., Yates, J., Pearce, N. J., Hoogerbrugge, P. M., Groot, P. H. E., & Van Berkel, T. J. C. (1997) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/01.atv.17.11.3117 · Cited by 96 · see citing works
Cladaras, C., Hadzopoulou-Cladaras, M., Felber, B. K., Pavlakis, G., & Zannis, V. I. (1987) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)61655-2 · Cited by 92 · see citing works
Abnormal Lipoprotein and Apolipoprotein Pattern in Lipoprotein Glomerulopathy
Oikawa, S., Suzuki, N., Sakuma, E., Saito, T., Namai, K., Kotake, H., Fujii, Y., & Toyota, T. (1991) · American Journal of Kidney Diseases · doi:10.1016/s0272-6386(12)80649-4 · Cited by 60 · see citing works
Lohse, P., Brewer, H., Meng, M., Skarlatos, S., LaRosa, J., & Brewer, H. (1992) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)41380-x · Cited by 59 · see citing works
FEUSSNER, G., FUNKE, H., WENG, W., ASSMANN, G., LACKNER, K. J., & ZIEGLER, R. (1992) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1992.tb01511.x · Cited by 28 · see citing works
Zannis, V. I., Ordovas, J. M., Cladaras, C., Cole, F. S., Forbes, G., & Schaefer, E. J. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)38808-7 · Cited by 21 · see citing works
Self-citationApoE deficiency: Markedly decreased levels of cellular ApoE mRNA
Anchors, J. M., Gregg, R. E., Law, S. W., & Brewer, H. B. (1986) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(86)80510-1 · Cited by 13 · see citing works
Severe xanthomatosis associated with familial apolipoprotein E deficiency.
Feussner, G. (1996) · Journal of Clinical Pathology · doi:10.1136/jcp.49.12.985 · Cited by 10 · see citing works
Feussner, G., Albanese, M., & Valencia, A. (1996) · Atherosclerosis · doi:10.1016/0021-9150(96)05870-4 · Cited by 7 · see citing works
- Authors
- Ghiselli, G., Schaefer, E. J., Gascon, P., & Breser, H. B.
- Affiliations
- National Heart, Lung, and Blood Institute (US)
- Molecular Disease Branch, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20205
- ORCID
- Schaefer, Ernst J.
- Venue
- Science
- Published
- 1981-12-11
- Volume
- 214
- Issue
- 4526
- Pages
- 1239-1241
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2017319919
- Cited by
- 274
- References
- 0
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 1 · 2023: 5 · 2022: 1 · 2021: 9 · 2020: 6 · 2019: 6 · 2018: 3 · 2017: 4 · 2016: 5 · 2015: 5 · 2014: 5 · 2013: 4 · 2012: 3
- FWCI
- 10.19
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- type III hyperlipoproteinemia, apolipoprotein E deficiency, VLDL, hypertriglyceridemia, premature atherosclerosis, familial hyperlipidemia, kindred
- MeSH terms
- Apolipoproteins, Apolipoproteins E, Immunodiffusion, Humans, Hyperlipoproteinemia Type III, Lipoproteins, HDL, Lipoproteins, VLDL, Pedigree, Reference Values
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
