Aβ profiles generated by Alzheimer’s disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset

Familial Alzheimer’s disease (FAD), caused by mutations in Presenilin (PSEN1/2) and Amyloid Precursor Protein (APP) genes, is associated with an early age at onset (AAO) of symptoms. AAO is relatively consistent within families and between carriers of the same mutations, but differs markedly between...

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Detalles Bibliográficos
Autores principales: Petit, Dieter, Fernández, Sara Gutiérrez, Zoltowska, Katarzyna Marta, Enzlein, Thomas, Ryan, Natalie S., O’Connor, Antoinette, Szaruga, Maria, Hill, Elizabeth, Vandenberghe, Rik, Fox, Nick C., Chávez-Gutiérrez, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9156411/
https://www.ncbi.nlm.nih.gov/pubmed/35365805
http://dx.doi.org/10.1038/s41380-022-01518-6

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