Associated Papers
Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.
Fleury M et al.
Pediatric Pulmonology, 2025
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
ABCA3-related interstitial lung disease beyond infancy.
Li Y et al.
Thorax, 2023
ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.
Yang X et al.
International Journal of Molecular Sciences, 2023
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease.
Yang X et al.
International Journal of Molecular Sciences, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.
Xiao GL et al.
World Journal of Pediatrics : Wjp, 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
Structure-Based Understanding of ABCA3 Variants.
Onnée M et al.
International Journal of Molecular Sciences, 2021
Whole exome sequencing identifies a novel variant in ABCA3 in an individual with fatal congenital surfactant protein deficiency.
Bozkurt HB et al.
The Turkish Journal of Pediatrics, 2021
ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.
Klay D et al.
Current Opinion in Pulmonary Medicine, 2020
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
Kinting S et al.
Journal of Cellular and Molecular Medicine, 2019
A New ABCA3 Gene Mutation c.3445G>A (p.Asp1149Asn) as a Causative Agent of Newborn Lethal Respiratory Distress Syndrome.
Mitsiakos G et al.
Medicina (kaunas, Lithuania), 2019
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U et al.
Human Mutation, 2018
Functional rescue of misfolding ABCA3 mutations by small molecular correctors.
Kinting S et al.
Human Molecular Genetics, 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 protects alveolar epithelial cells against free cholesterol induced cell death.
Zarbock R et al.
Biochimica Et Biophysica Acta, 2015
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
Kaltenborn E et al.
Human Molecular Genetics, 2012
The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.
Engelbrecht S et al.
Febs Letters, 2010
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