Associated Papers
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.
Serra G et al.
Journal of Clinical Medicine, 2025
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene.
Beers MF et al.
Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft, 2017
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2016
ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.
Ota C et al.
Pediatric Pulmonology, 2016
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