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Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.

Scientific reports - 8 Aug 2023

Gomez-Sequeda Nicolas, Mendivil-Perez Miguel, Jimenez-Del-Rio Marlene, Lopera Francisco, Velez-Pardo Carlos

Abstract excerpt

Familial Alzheimer's disease (FAD) is a complex neurodegenerative disorder for which there are no therapeutics to date. Several mutations in presenilin 1 (PSEN 1), which is the catalytic component of γ-secretase complex, are causal of FAD. Recently, the p.Ile416Thr (I416T) PSEN 1 mutation has been reported in large kindred in Colombia. However, cell and molecular information from I416T mutation is scarce. Here,...

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PMID: 37553376
DOI: 10.1038/s41598-023-39630-4
PMCID: PMC10409854

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