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Increased Aβ42(43) from cell lines expressing presenilin 1 mutations
Abstract
Mutations in the presenilin 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early‐onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild‐type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more Aβ42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice‐out mutation (δ9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.
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“familial EOAD mutations in PSEN1 and PSEN2 typically result in an increased production of longer and more aggregation-prone derivatives of APP such as Aβ1–42 [47–49].”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [48]
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Self-citationAlzheimer's Disease and Parkinson's Disease
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Characterization of amyloid deposition in the APPswe/PS1dE9 mouse model of Alzheimer disease
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Metadata
- Authors
- Mehta, N. D., Refolo, L. M., Eckman, C., Sanders, S., Yager, D., Perez‐Tur, J., Younkin, S., Duff, K., Hardy, J., & Hutton, M.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Hardy, John
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1998-02
- Volume
- 43
- Issue
- 2
- Pages
- 256-258
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1987287896
- Cited by
- 101
- References
- 21
- Citations by year
- 2025: 1 · 2023: 2 · 2022: 3 · 2021: 1 · 2020: 2 · 2019: 1 · 2018: 3 · 2017: 1 · 2016: 1 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 2
- FWCI
- 7.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG 146133)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- presenilin 1, APP processing, amyloid-beta 42, Alzheimer's disease, presenilin 1 mutations, age of onset, autosomal dominant Alzheimer's disease, cell lines
- MeSH terms
- Alzheimer Disease, Analysis of Variance, Cell Line, Chromosomes, Human, Pair 14, Clone Cells, Gene Expression Regulation, Humans, Kidney, Membrane Proteins, Transfection, Blotting, Western, Point Mutation, Age of Onset, DNA, Complementary, Presenilin-1
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