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Article

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

The Journal of experimental medicine - 7 Jun 2021

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

Abstract excerpt

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, in APP that corresponds to a Ser198Pro substitution in exon 5. We now report that in stably transfected cells,...

Topics

Alzheimer Disease
Amyloid beta-Peptides
Amyloid beta-Protein Precursor
Animals
Brain
Cell Line, Tumor
Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Female

HEK293 Cells

Humans

Male

Mice

Mice, Transgenic

Mutation

Plaque, Amyloid

Source

Open in PubMed Open full text

Identifiers

PMID: 33822840
DOI: 10.1084/jem.20210313
PMCID: PMC8034382

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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