Journal of clinical lipidology
A novel ABCA1 variant associated with impaired platelet production contributing to thrombocytopenia in a family with Tangier disease.
Diego Gómez-Coronado, Carmen Rodríguez-Jiménez, Patricia Villar, María E Fernández-Suárez, Johannes A Eble, Gema de la Peña, Javier Martínez-Botas, Andrea Acebes-Huerta, Pedro Prieto-Cazorla, María Villa-Fajardo, Miguel A Lasunción, Sonia Rodríguez-Nóvoa, Laura Gutiérrez
Published: 202510.1016/j.jacl.2025.12.009
Abstract
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 disea…
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