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Article

Early senescence in heterozygous ABCA1 mutation skin fibroblasts: a gene dosage effect beyond HDL deficiency?

Biochemical and biophysical research communications - 2 May 2014

Puntoni Mariarita, Bigazzi Federico, Sabatino Laura, Sbrana Francesco, Musio Antonio, Dal Pino Beatrice, Ragusa Andrea, Corsano Elena, Sampietro Tiziana

Abstract excerpt

PURPOSE: Homozygous ABCA1 gene mutation causes Tangier disease (TD). The effects reported in heterozygous state regard plasma HDL, cell cholesterol efflux and coronary artery disease. We investigated whether in vitro replicative skin fibroblast senescence shown in TD proband (Hom), his father (He...

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Share to ATP Binding Cassette Transporter 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24680682
DOI: 10.1016/j.bbrc.2014.03.090

Genes

ABCA1
ABCG1
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24680682-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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