Genetic Mutations Affecting Human Lipoprotein Metabolism
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Affected subjects are often homozygous for apo E2, but heterozygosity for this variant has also been reported in association with the disease.
“Affected subjects are often homozygous for apo E2, but hetero- zygosity for this variant has also been reported in association with this disease (4)(5)(6)(7)(8).”
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 [5]
Cites
Human apolipoprotein E. The complete amino acid sequence
Rall, S. C., Weisgraber, K. H., & Mahley, R. W. (1982) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)34702-1 · Cited by 741 · see citing works
Brown, M. S., Ho, Y. K., & Goldstein, J. L. (1980) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)70568-7 · Cited by 722 · see citing works
Zannis, V. I., & Breslow, J. L. (1981) · Biochemistry · doi:10.1021/bi00507a059 · Cited by 563 · see citing works
Self-citationProposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes
Zannis, V. I., Breslow, J. L., Utermann, G., Mahley, R. W., Weisgraber, K. H., Havel, R. J., Goldstein, J. L., Brown, M. S., Schonfeld, G., Hazzard, W. R., et al. (1982) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)38094-9 · Cited by 436 · see citing works
Self-citationRall, S. C., Weisgraber, K. H., Innerarity, T. L., & Mahley, R. W. (1982) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.79.15.4696 · Cited by 345 · see citing works
The receptor-binding domain of human apolipoprotein E. Binding of apolipoprotein E fragments.
Innerarity, T. L., Friedlander, E. J., Rall, S. C., Weisgraber, K. H., & Mahley, R. W. (1983) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)44180-9 · Cited by 276 · see citing works
Sherrill, B. C., & Dietschy, J. M. (1978) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)62331-8 · Cited by 197 · see citing works
Experiences with the Homozygous Cases of Familial Hypercholesterolemia
Khachadurian, A. K., & Uthman, S. M. (1973) · Annals of Nutrition and Metabolism · doi:10.1159/000175431 · Cited by 185 · see citing works
Fainaru, M., Mahley, R. W., Hamilton, R. L., & Innerarity, T. L. (1982) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)38102-5 · Cited by 156 · see citing works
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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
- Authors
- Zannis, V. I., & Breslow, J. L.
- Affiliations
- Harvard University (US)
- Venue
- Springer eBooks
- Publisher
- Springer US
- Published
- 1985
- Volume
- 14
- Pages
- 125-215
- OpenAlex
- W138331416
- Cited by
- 65
- References
- 9
- Citations by year
- 2020: 2 · 2017: 1 · 2016: 1 · 2015: 1
- FWCI
- 30.84
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Springer eBooks (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (HL-33952)
- 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
- genetic mutations, lipoprotein metabolism, lipoproteins, apolipoproteins, chylomicrons, VLDL, low-density lipoprotein, high-density lipoprotein, intermediate density lipoprotein, lipid transport, serum lipoproteins
- MeSH terms
- Abetalipoproteinemia, Amino Acid Sequence, Animals, Apolipoproteins A, Apolipoproteins E, Apoproteins, Carrier Proteins, Cholesterol Esters, Humans, Hyperlipoproteinemia Type II, Hyperlipoproteinemias, Hyperlipoproteinemia Type III, Hypolipoproteinemias, Phosphatidylcholine-Sterol O-Acyltransferase, Lipase, Lipoproteins, Lipoproteins, HDL, Protein Processing, Post-Translational, Rabbits, Receptors, Cell Surface, Receptors, LDL, Tangier Disease, RNA-Binding Proteins, Apolipoprotein A-I, Receptors, Lipoprotein, Low Density Lipoprotein Receptor-Related Protein-1, Mice, Rats
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.
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