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Article

Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Molecular psychiatry - 1 Nov 2020

Arber Charles, Toombs Jamie, Lovejoy Christopher, Ryan Natalie S, Paterson Ross W, Willumsen Nanet, Gkanatsiou Eleni, Portelius Erik, Blennow Kaj, Heslegrave Amanda, Schott Jonathan M, Hardy John, Lashley Tammaryn, Fox Nick C, Zetterberg Henrik, Wray Selina

Abstract excerpt

Familial Alzheimer's disease (fAD) mutations alter amyloid precursor protein (APP) cleavage by γ-secretase, increasing the proportion of longer amyloidogenic amyloid-β (Aβ) peptides. Using five control induced pluripotent stem cell (iPSC) lines and seven iPSC lines generated from fAD patients, we investigated the effects of mutations on the Aβ secretome in human neurons generated in 2D and 3D. We also analysed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30980041
DOI: 10.1038/s41380-019-0410-8
PMCID: PMC7577860

Genes

APP
PSEN1

Variants

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