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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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Rockefeller University Press 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8034382/
https://ncbi.nlm.nih.gov/pubmed/33822840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20210313
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