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Article

Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.

International journal of molecular sciences - 20 Apr 2023

Yang Xiaohua, Rapp Christina K, Li Yang, Forstner Maria, Griese Matthias

Abstract excerpt

ATP-binding cassette subfamily A member 3 (ABCA3) is a lipid transporter within alveolar type II cells. Patients with bi-allelic variants in ABCA3 may suffer from a variable severity of interstitial lung disease. We characterized and quantified ABCA3 variants' overall lipid transport function by assessing the in vitro impairment of its intracellular trafficking and pumping activity. We expressed the results...

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Identifiers

PMID: 37108718
DOI: 10.3390/ijms24087554
PMCID: PMC10141231

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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