The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Identification of Human Apolipoprotein E Variant Gene: Apolipoprotein E7 (Glu244,245↑Lys244,245)1
Abstract
Apolipoprotein E (apoE) is one of the protein moieties of the human serum lipoproteins. Three major isoforms of apoE (apoE2, apoE3, and apoE4) and minor variant isoforms (apoE1, apoE5, and apoE7) have been detected by isoelectric focusing. In this study we have cloned the apoE7 gene from a patient with the apoE3/E7 phenotype associated with hypertriglyceridemia and diabetes mellitus. DNA sequencing revealed that the apoE7 gene has two base substitutions (G----A) changing Glu244,245----Lys244,245, compared with the apoE3 gene. The replacement of the two amino acids is consistent with the result of isoelectric focusing of the apoE7 isoprotein, which shifts to four positively charged units compared with the apoE3 isoprotein.
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rs140808909 (p.E262K) and rs190853081 (p.E263K) have been previously identified in Japanese patients with dyslipidemia and atherosclerosis and are defined as the APOE ε7 allele.
“Both variants have been previously identified in Japanese patients with dyslipidemia and atherosclerosis and is defined as the APOE ε7 allele.29–31”
From Association of rare APOE missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [30]
The ε7 allele has been linked to dyslipidemia and atherosclerosis.
“Notably, the ε7 allele has been linked to dyslipidemia and atherosclerosis,29–31 yet few studies have examined its binding to LDLR and heparin. 38”
From Association of rare APOE missense variants with Alzheimer's disease in the Japanese population (2025) · cites this paper as [30]
Citations
Cites
Nucleotide sequence and structure of the human apolipoprotein E gene.
Paik, Y. K., Chang, D. J., Reardon, C. A., Davies, G. E., Mahley, R. W., & Taylor, J. M. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.10.3445 · Cited by 281
Gel isoelectric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3
Warnick, G. R., Mayfield, C., Albers, J. J., & Hazzard, W. R. (1979) · Clinical Chemistry · doi:10.1093/clinchem/25.2.279 · Cited by 182
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Apolipoprotein E: Structure-Function Relationships
Weisgraber, K. H. (1994) · Advances in Protein Chemistry · doi:10.1016/s0065-3233(08)60642-7 · Cited by 830
APOE gene variants in primary dyslipidemia
Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.05.007 · Cited by 170
Blokhina, A. V., Ershova, A. I., Kiseleva, A. V., Sotnikova, E. A., Zharikova, A. A., Zaicenoka, M., Vyatkin, Y. V., Ramensky, V. E., Kutsenko, V. A., Garbuzova, E. V., et al. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252312651 · Cited by 8
Association of rare APOE missense variants with Alzheimer's disease in the Japanese population
Miyashita, A., Obinata, A., Hara, N., Mitsumori, R., Kaneda, D., Hashizume, Y., Sano, T., Takao, M., Gabdulkhaev, R., Tada, M., et al. (2025) · Journal of Alzheimer’s Disease · doi:10.1177/13872877251340710 · Cited by 5
Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/E4
Arai, M., Nishimura, A., Mori, Y., Ebara, T., & Okubo, M. (2014) · Clinica Chimica Acta · doi:10.1016/j.cca.2014.06.001 · Cited by 2
Metadata
- Authors
- Maeda, H., Nakamura, H., Kobori, S., Okada, M., Mori, H., Niki, H., Ogura, T., & Hiraga, S.
- Affiliations
- Naruto University of Education (JP)
- Kumamoto University (JP)
- Venue
- The Journal of Biochemistry
- Publisher
- Oxford University Press (OUP)
- Published
- 1989-01
- Volume
- 105
- Issue
- 1
- Pages
- 51-54
- ISSN
- 0021-924X (ISSN-L)
- 1756-2651
- OpenAlex
- W1829035176
- Semantic Scholar
- 61deb2e6d068cd955b5d0b1e2918ade6a97782ae
- Cited by
- 29
- References
- 2
- Citations by year
- 2025: 1 · 2024: 1 · 2023: 1 · 2021: 4 · 2014: 1 · 2013: 1
- FWCI
- 1.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Biochemistry (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- apolipoprotein E isoforms, amino acid substitutions, hypertriglyceridemia, diabetes mellitus, serum lipoproteins, isoelectric focusing
- MeSH terms
- Amino Acid Sequence, Apolipoproteins E, Base Sequence, Diabetes Mellitus, Humans, Isoelectric Focusing, Male, Middle Aged, Molecular Sequence Data, Hypertriglyceridemia, Apolipoprotein E3
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