An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo

Familial Alzheimer’s disease (FAD)–linked mutations in the APP gene occur either within the Aβ-coding region or immediately proximal and are located in exons 16 and 17, which encode Aβ peptides. We have identified an extremely rare, partially penetrant, single nucleotide variant (SNV), rs145081708,...

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Detalles Bibliográficos
Autores principales: Zhang, Xulun, Zhang, Can Martin, Prokopenko, Dmitry, Liang, Yingxia, Zhen, Sherri Y., Weigle, Ian Q., Han, Weinong, Aryal, Manish, Tanzi, Rudolph E., Sisodia, Sangram S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8034382/
https://www.ncbi.nlm.nih.gov/pubmed/33822840
http://dx.doi.org/10.1084/jem.20210313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8034382/
https://www.ncbi.nlm.nih.gov/pubmed/33822840
http://dx.doi.org/10.1084/jem.20210313

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