Associated Papers
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
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
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Metabolic labelling of choline phospholipids probes ABCA3 transport in lamellar bodies.
Li Y et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2019
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
Kinting S et al.
Journal of Cellular and Molecular Medicine, 2019
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
Wittmann T et al.
Molecular Medicine (cambridge, Mass.), 2016
New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.
Piersigilli F et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Genetic risk factors associated with respiratory distress syndrome.
Jo HS
Korean Journal of Pediatrics, 2014
Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
Ciantelli M et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2011
Identification and characterization of a novel ABCA3 mutation.
Park SK et al.
Physiological Genomics, 2010
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
Matsumura Y et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2008
Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress.
Yokota T et al.
European Journal of Pediatrics, 2008
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
Matsumura Y et al.
The Journal of Biological Chemistry, 2006
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Shulenin S et al.
The New England Journal of Medicine, 2004