Rare APOE Missense Variants—Can We Overcome APOE ε4 and Alzheimer Disease Risk?
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Several rare and protective APOE variants (R154S Christchurch, V236E Jacksonville, and R251G) have been identified recently.
“Beyond the known effects of APOE ε2 and APOE ε4, several rare and protective APOE variants (R154S Christchurch (APOECh), V236E Jacksonville, and R251G) have been identified recently [3, 4].”
From Characterization of APOE Christchurch carriers in 455,306 UK Biobank participants (2023) · cites this paper as [4]
Cites
Apolipoprotein E in Alzheimer’s disease and other neurological disorders
Verghese, P. B., Castellano, J. M., & Holtzman, D. M. (2011) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70325-2 · Cited by 857 · see citing works
Tang, M.-X. (1998) · JAMA · doi:10.1001/jama.279.10.751 · Cited by 771 · see citing works
<i>APOE3</i> -Jacksonville (V236E) variant reduces self-aggregation and risk of dementia
Liu, C.-C., Murray, M. E., Li, X., Zhao, N., Wang, N., Heckman, M. G., Shue, F., Martens, Y., Li, Y., Raulin, A.-C., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abc9375 · Cited by 108 · see citing works
Association of Rare <i>APOE</i> Missense Variants V236E and R251G With Risk of Alzheimer Disease
Le Guen, Y., Belloy, M. E., Grenier-Boley, B., de Rojas, I., Castillo-Morales, A., Jansen, I., Nicolas, A., Bellenguez, C., Dalmasso, C., Küçükali, F., et al. (2022) · JAMA Neurology · doi:10.1001/jamaneurol.2022.1166 · Cited by 93 · see citing works
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Characterization of APOE Christchurch carriers in 455,306 UK Biobank participants
He, K. Y., Khramtsova, E. A., Cabrera-Socorro, A., Zhang, Y., Li, S., Sarver, B. A. J., Smets, B., Li, Q. S., De Muynck, L., Parrado, A. R., et al. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00684-7 · Cited by 8 · see citing works
- Authors
- Rabinovici, G. D., & Dubal, D. B.
- Affiliations
- University of California, San Francisco (US)
- Venue
- JAMA Neurology
- Publisher
- American Medical Association (AMA)
- Published
- 2022-07-01
- Volume
- 79
- Issue
- 7
- Pages
- 649
- ISSN
- 2168-6149 (ISSN-L)
- OpenAlex
- W4281683537
- Cited by
- 12
- References
- 4
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 1 · 2023: 3 · 2022: 1
- FWCI
- 1.08
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JAMA Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS092918)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- apolipoprotein E, APOE ε4, missense mutations, rare variants, Alzheimer's disease risk, genetic risk factors, amyloid-beta
- MeSH terms
- Alleles, Alzheimer Disease, Apolipoproteins E, Genotype, Humans, Risk Factors, Apolipoprotein E4
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