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Article

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease.

Brain : a journal of neurology - 1 Nov 2006

Brouwers Nathalie, Sleegers Kristel, Engelborghs Sebastiaan, Bogaerts Veerle, Serneels Sally, Kamali Kenan, Corsmit Ellen, De Leenheir Evelyn, Martin Jean-Jacques, De Deyn Peter P, Van Broeckhoven Christine, Theuns Jessie

Abstract excerpt

It is well established that Alzheimer's disease causing mutations in APP, PSEN1 and PSEN2 lead to a relative increased production of Abeta42, thereby fostering its deposition in plaques. Recently others and we showed that amyloid precursor protein (APP) overproduction, either as a result of genomic locus duplication or altered regulatory sequences in the APP promoter region, leads to early-onset disease. Here, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16931535
DOI: 10.1093/brain/awl212

Genes

APP
PSEN1
PSEN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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