Associated Papers
Cyclosporine A in children with ABCA3 deficiency.
Yang X et al.
Pediatric Pulmonology, 2024
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
Learning from cystic fibrosis: How can we start to personalise treatment of Children's Interstitial Lung Disease (chILD)?
Bush A
Paediatric Respiratory Reviews, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.
Anciuc-Crauciuc M et al.
International Journal of Molecular Sciences, 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
High-Content Screening Identifies Cyclosporin A as a Novel ABCA3-Specific Molecular Corrector.
Forstner M et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.
Al-Iede M et al.
Congenital Anomalies, 2021
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hu JY et al.
Human Mutation, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The classification of ATP-binding cassette subfamily A member 3 mutations using the cystic fibrosis transmembrane conductance regulator classification system.
Denman L et al.
Pediatric Investigation, 2018
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
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Paolini A et al.
International Journal of Molecular Sciences, 2015
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.
Chen P et al.
Investigative Ophthalmology & Visual Science, 2014
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Campo I et al.
Respiratory Research, 2014
A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments.
Beers MF et al.
Journal of Lipid Research, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Identification and characterization of a novel ABCA3 mutation.
Park SK et al.
Physiological Genomics, 2010
ABC transporter A3 facilitates lysosomal sequestration of imatinib and modulates susceptibility of chronic myeloid leukemia cell lines to this drug.
Chapuy B et al.
Haematologica, 2009
ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.
Matsumura Y et al.
Febs Letters, 2007
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
Matsumura Y et al.
The Journal of Biological Chemistry, 2006
Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.
Cheong N 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
Genetic disorders of surfactant dysfunction.
Wert SE et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0