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Article

Tangier disease and ABCA1.

Biochimica et biophysica acta - 15 Dec 2000

Oram J F

Abstract excerpt

Tangier disease is an autosomal recessive genetic disorder characterized by a severe high-density lipoprotein (HDL) deficiency, sterol deposition in tissue macrophages, and prevalent atherosclerosis. Mutations in the ATP binding cassette transporter ABCA1 cause Tangier disease and other familial HDL deficiencies. ABCA1 controls a cellular pathway that secretes cholesterol and phospholipids to lipid-poor...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11111099
DOI: 10.1016/s1388-1981(00)00157-8

Genes

ABCA1

Provenance

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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Tangier disease and ABCA1.PMID 11111099Read ↗

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ATP binding cassette transporter A1--key roles in cellular lipid transport and atherosclerosis.Semantic proximity Read ↗

High density lipoprotein deficiency and foam cell accumulation in mice with targeted disruption of ATP-binding cassette transporter-1.Semantic proximity Read ↗

The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway.Semantic proximity Read ↗

ABCA1-deficient mice: insights into the role of monocyte lipid efflux in HDL formation and inflammation.Semantic proximity Read ↗

A novel ABCA1 variant associated with impaired platelet production contributing to thrombocytopenia in a family with Tangier disease.Semantic proximity Read ↗

Study of ABCA1 Function in Transgenic MiceSemantic proximity Read ↗

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.Semantic proximity Read ↗

A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.Semantic proximity Read ↗

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