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The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue

Mutations in the presenilin 1 gene, PSEN1, which cause familial Alzheimer’s disease alter the processing of amyloid precursor protein, leading to the generation of various amyloid-β peptide species. These species differ in their potential for aggregation. Mutation-specific amyloid-β peptide profiles...

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Detalles Bibliográficos
Autores principales: Willumsen, Nanet, Arber, Charles, Lovejoy, Christopher, Toombs, Jamie, Alatza, Argyro, Weston, Philip S J, Chávez-Gutiérrez, Lucia, Hardy, John, Zetterberg, Henrik, Fox, Nick C, Ryan, Natalie S, Lashley, Tammaryn, Wray, Selina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9847549/
https://www.ncbi.nlm.nih.gov/pubmed/36687397
http://dx.doi.org/10.1093/braincomms/fcac321