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Article

Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Dec 2015

Nordestgaard Liv Tybjærg, Tybjærg-Hansen Anne, Nordestgaard Børge G, Frikke-Schmidt Ruth

Abstract excerpt

INTRODUCTION: The adenosine triphosphate-binding cassette transporter A1 (ABCA1) is a major cholesterol transporter highly expressed in the liver and brain. In the brain, ABCA1 lipidates apolipoprotein E (apoE), facilitates clearance of amyloid-β, and may be involved in maintenance of the blood-brain barrier via apoE-mediated pathways. METHODS: We tested whether a loss-of-function mutation in ABCA1, N1800H, is...

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Source

Identifiers

PMID: 26079414
DOI: 10.1016/j.jalz.2015.04.006

Genes

ABCA1

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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