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Article

Epistasis between intracellular cholesterol trafficking-related genes (NPC1 and ABCA1) and Alzheimer's disease risk.

Journal of Alzheimer's disease : JAD - 1 Jan 2010

Rodríguez-Rodríguez Eloy, Vázquez-Higuera José Luis, Sánchez-Juan Pascual, Mateo Ignacio, Pozueta Ana, Martínez-García Ana, Frank Ana, Valdivieso Fernando, Berciano José, Bullido María J, Combarros Onofre

Abstract excerpt

Aberrant cholesterol metabolism has been implicated in Alzheimer's disease (AD). Recent findings have suggested an interaction of Niemann-Pick C1 (NPC1) and ATP-binding cassette transporter A1 (ABCA1) proteins in intracellular cholesterol transport and in maintaining cell cholesterol balance. Underexpression of NPC1 in concert with under-expression of ABCA1 would result in increased cholesterol accumulation and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20571217
DOI: 10.3233/JAD-2010-100432

Genes

NPC1
ABCA1

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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