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Characterization and Molecular Profiling of PSEN1 Familial Alzheimer's Disease iPSC-Derived Neural Progenitors
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Studies using human iPSC-derived neurons demonstrate that the PSEN1 M146L mutation significantly elevates the Aβ42/Aβ40 ratio by selectively increasing Aβ42 production without altering Aβ40 levels, a biochemical signature strongly linked to amyloid aggregation and neurotoxicity in AD.
“Moreover, studies utilizing human induced pluripotent stem cell (iPSC)-derived neurons demonstrate that the M146L mutation significantly elevates the Aβ42/Aβ40 ratio by selectively increasing Aβ42 production without altering Aβ40 levels, a biochemical signature strongly linked to amyloid aggregation and neurotoxicity in AD (Liu et al. 2014), (Sproul et al. 2014), (Schrank et al. 2020).”
From TMEM55B downregulation promotes neurodegeneration in Alzheimer’s disease models (2026) · cites this paper as Sproul et al. 2014
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Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
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NLRP3 is activated in Alzheimer’s disease and contributes to pathology in APP/PS1 mice
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“The most prevalent theory for the underlying cause of AD is the ‘‘amyloid hypothesis’’, in which toxic oligomerogenic forms of Ab, a cleavage product of APP, accumulate and cause neuronal dysfunction and cell death [4].”
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Metadata
- Authors
- Sproul, A. A., Jacob, S., Pre, D., Kim, S. H., Nestor, M. W., Navarro-Sobrino, M., Santa-Maria, I., Zimmer, M., Aubry, S., Steele, J. W., Kahler, D. J., Dranovsky, A., Arancio, O., Crary, J. F., Gandy, S., & Noggle, S. A.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2014-01-08
- Volume
- 9
- Issue
- 1
- Pages
- e84547
- ISSN
- 1932-6203
- PMC
- PMC3885572
- Cited by
- 162
- References
- 9
- Language
- en
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