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
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
35394827 (PubMed )
Supplement: sciadv.abn3727_sm.pdf
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Oltvai ZN et al.
Cold Spring Harbor Molecular Case Studies, 2020
32532878 (PubMed )
Supplement: supp_mcs.a005074_Supplemental_Tables.pdf
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2018
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Pachajoa H et al.
Journal of Medical Case Reports, 2016
Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.
Gonçalves JP et al.
Gene, 2014
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