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Article

CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.

Alzheimer's research & therapy - 9 Nov 2023

Duchateau Lena, Küҫükali Fahri, De Roeck Arne, Wittens Mandy M J, Temmerman Joke, Weets Ilse, Timmers Maarten, Engelborghs Sebastiaan, Bjerke Maria, Sleegers Kristel

Abstract excerpt

BACKGROUND: The Alzheimer's disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem repeats (VNTR) polymorphism in the gene, both likely cause a lower ABCA7 expression and hereby increased risk for AD. However, the exact mechanism of action remains unclear. By studying CSF...

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Identifiers

PMID: 37946268
DOI: 10.1186/s13195-023-01338-y
PMCID: PMC10634183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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