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
ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease.
Cho JG et al.
Respirology Case Reports, 2020
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
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
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
Wambach JA et al.
American Journal of Respiratory Cell and Molecular Biology, 2016
ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.
Peca D et al.
Biochemical Society Transactions, 2015
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Wambach JA et al.
American Journal of Respiratory and Critical Care Medicine, 2014
Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3.
Beers MF et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2013
Ubiquitin-mediated proteasomal degradation of ABC transporters: a new aspect of genetic polymorphisms and clinical impacts.
Nakagawa H et al.
Journal of Pharmaceutical Sciences, 2011
Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells.
Weichert N et al.
Respiratory Research, 2011
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
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
Somaschini M et al.
The Journal of Pediatrics, 2007
Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency.
Brasch F et al.
American Journal of Respiratory and Critical Care Medicine, 2006
Surfactant composition and function in patients with ABCA3 mutations.
Garmany TH et al.
Pediatric Research, 2006