Associated Papers
Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variants.
Cooney AL et al.
Biorxiv : the Preprint Server for Biology, 2025
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
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.
Sun YL et al.
The Journal of Clinical Investigation, 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
Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.
Findley TO et al.
Translational Pediatrics, 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
Instability of Mature ABCA3 Protein: Toward a New Classification of ABCA3 Mutations?
Onnée M et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
Gene Therapeutics for Surfactant Dysfunction Disorders: Targeting the Alveolar Type 2 Epithelial Cell.
Sitaraman S et al.
Human Gene Therapy, 2022
Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.
Wang JY et al.
American Journal of Respiratory Cell and Molecular Biology, 2022
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Xie T et al.
Science Advances, 2022
A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.
Al-Iede M et al.
Congenital Anomalies, 2021
Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction.
Cooney AL et al.
Frontiers in Genome Editing, 2021
Functional Genomics of ABCA3 Variants.
Wambach JA et al.
American Journal of Respiratory Cell and Molecular Biology, 2020
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hu JY et al.
Human Mutation, 2020
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Schindlbeck U et al.
Human Mutation, 2018
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
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
The biology of the ABCA3 lipid transporter in lung health and disease.
Beers MF et al.
Cell and Tissue Research, 2017
Tools to explore ABCA3 mutations causing interstitial lung disease.
Wittmann T et al.
Pediatric Pulmonology, 2016
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
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
Wittmann T et al.
Molecular Medicine (cambridge, Mass.), 2016
Neonatal Respiratory Failure with Retarded Perinatal Lung Maturation in Mice Caused by Reticulocalbin 3 Disruption.
Jin J et al.
American Journal of Respiratory Cell and Molecular Biology, 2016
Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.
Mulugeta S et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2015
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C et al.
The European Respiratory Journal, 2015
Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.
Chen P et al.
Investigative Ophthalmology & Visual Science, 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
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
Bækvad-Hansen M et al.
Respiratory Research, 2012
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
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
The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.
Engelbrecht S et al.
Febs Letters, 2010
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
Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.
Karjalainen MK et al.
Annals of Medicine, 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
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