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Article

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

Journal of clinical lipidology - 1 Feb 2026

Gómez-Coronado Diego, Rodríguez-Jiménez Carmen, Villar Patricia, Fernández-Suárez María E, Eble Johannes A, de la Peña Gema, Martínez-Botas Javier, Acebes-Huerta Andrea, Prieto-Cazorla Pedro, Villa-Fajardo María, Lasunción Miguel A, Rodríguez-Nóvoa Sonia, Gutiérrez Laura

Abstract excerpt

BACKGROUND: ATP-binding cassette A1 (ABCA1) is a membrane-associated cholesterol efflux pump that is crucial for high-density lipoprotein (HDL) biogenesis and cellular cholesterol homeostasis. Pathogenic variants in the ABCA1 gene cause Tangier disease (TD), a rare autosomal recessive disorder characterized by nearly absent HDL in plasma and cholesteryl ester accumulation in tissue macrophages. Clinical...

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Source

Identifiers

PMID: 41545245
DOI: 10.1016/j.jacl.2025.12.009

Genes

ABCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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