Associated Papers
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M et al.
Pediatric Pulmonology, 2025
ABCA3 Surfactant-Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature.
Nolan J et al.
Respirology Case Reports, 2025
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Xu KK et al.
Pediatric Pulmonology, 2022
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
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Hereditary interstitial lung diseases manifesting in early childhood in Japan.
Akimoto T et al.
Pediatric Research, 2014
Genetic testing in children with surfactant dysfunction.
Turcu S et al.
Archives of Disease in Childhood, 2013
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Flamein F et al.
Human Molecular Genetics, 2012
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