Cited by 1,611Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchDown syndrome and intellectual disability research

Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus

Tanzi, Rudolph E., Gusella, James F., Watkins, Paul C., Bruns, Gail A. P., St George-Hyslop, Peter, Van Keuren, Margaret L., Patterson, David, Pagan, Susan +2 more·1987·Science

Abstract

The amyloid β protein has been identified as an important component of both cerebrovascular amyloid and amyloid plaques of Alzheimer's disease and Down syndrome. A complementary DNA for the β protein suggests that it derives from a larger protein expressed in a variety of tissues. Overexpression of the gene in brain tissue from fetuses with Down syndrome (trisomy 21) can be explained by dosage since the locus encoding the β protein maps to chromosome 21. Regional localization of this gene by both physical and genetic mapping places it in the vicinity of the genetic defect causing the inherited form of Alzheimer's disease.

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Crossref · 10.1126/science.2949367

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41 of 41 references verified0 citation errors · 0 not checkable

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  • Sequence differences between mice and humans include 3 amino acids within the Aβ sequence (R5G, Y10F and H13R).

    “Importantly, sequence differences between mice and humans include 3 amino acids within the Aβ sequence (R5G, Y10F and H13R)[155, 174].”

    From Alzheimer's disease: experimental models and reality (2017) · cites this paper as [155]

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Authors
Tanzi, R. E., Gusella, J. F., Watkins, P. C., Bruns, G. A. P., St George-Hyslop, P., Van Keuren, M. L., Patterson, D., Pagan, S., Kurnit, D. M., & Neve, R. L.
Venue
Science
Published
1987-02-20
Volume
235
Issue
4791
Pages
880-884
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2056046302
Cited by
1,611
References
41
Citations by year
2026: 13 · 2025: 15 · 2024: 14 · 2023: 22 · 2022: 19 · 2021: 23 · 2020: 33 · 2019: 31 · 2018: 18 · 2017: 27 · 2016: 29 · 2015: 22 · 2014: 22 · 2013: 33 · 2012: 34
FWCI
123.83
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institute on Aging (AG 00029)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 20118, HD10658)
Topics
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
amyloid-beta, APP gene, Alzheimer's disease, Down syndrome, chromosome 21, genetic linkage, gene mapping, cerebrovascular amyloid, amyloid plaques, gene dosage
MeSH terms
Alzheimer Disease, Amino Acid Sequence, Amyloid, Amyloidosis, Brain, Chromosome Mapping, Chromosomes, Human, Pair 21, DNA, Down Syndrome, Gene Expression Regulation, Humans, Genetic Linkage, RNA, Messenger, Tissue Distribution, Transcription, Genetic

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