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Article

The effects of different familial Alzheimer's disease mutations on APP processing in vivo.

Alzheimer's research & therapy - 16 Feb 2017

Thordardottir Steinunn, Kinhult Ståhlbom Anne, Almkvist Ove, Thonberg Håkan, Eriksdotter Maria, Zetterberg Henrik, Blennow Kaj, Graff Caroline

Abstract excerpt

BACKGROUND: Disturbed amyloid precursor protein (APP) processing is considered to be central to the pathogenesis of Alzheimer's disease (AD). The autosomal dominant form of the disease, familial AD (FAD), may serve as a model for the sporadic form of AD. In FAD the diagnosis of AD is reliable and presymptomatic individuals carrying FAD mutations can give valuable insights into the earliest stages of the disease...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28209190
DOI: 10.1186/s13195-017-0234-1
PMCID: PMC5312523

Genes

APP
PSEN1

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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