ArticleJournal of cellular and molecular medicine2019
Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.
Article in Journal of cellular and molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Old and emerging therapies for childhood interstitial lung disease (chILD): a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants.American journal of respiratory cell and molecular biology · 2026Article
- Respiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 Variants.Pediatric pulmonology · 2026Article
- Targeting ABCA3 impedes tumor progression and EGFR-TKI resistance in EGFR-mutant LUAD.Cancer cell international · 2026Article
- ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.Scientific reports · 2025Article
- Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.Pediatric pulmonology · 2025Article
- Lentiviral-mediated gene complementation rescues pathogenicbioRxiv : the preprint server for biology · 2025Article
- Article
- Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.Respirology (Carlton, Vic.) · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- An update on diagnosis and treatments of childhood interstitial lung diseases.Breathe (Sheffield, England) · 2025Review
- Efficacy and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency.ERJ open research · 2025Article
- Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- THERAPIES FOR NEONATAL DISEASES OF THE SURFACTANT SYSTEM.Transactions of the American Clinical and Climatological Association · 2025Review
- Cyclosporine A in children with ABCA3 deficiency.Pediatric pulmonology · 2024Article
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- The Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article.Children (Basel, Switzerland) · 2024Review
- Article
- Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations.The Journal of clinical investigation · 2024Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ABCA3 is a phospholipid transporter implicated in pulmonary surfactant homoeostasis and localized at the limiting membrane of lamellar bodies, the storage compartment for surfactant in alveolar type II cells. Mutations in ABCA3 display a common genetic cause for diseases caused by surfactant deficiency like respiratory distress in neonates and interstitial lung disease in children and adults, for which currently no causal therapy exists. In this study, we investigated the effects of ivacaftor and genistein, two potentiators of the cystic fibrosis transmembrane conductance regulator (CFTR), on ABCA3-specific lipid transport function. Wild-type (WT) and functional ABCA3 mutations N568D, F629L, G667R, T1114M and L1580P were stably expressed in A549 cells. Three-dimensional modelling predicted functional impairment for all five mutants that was confirmed by in vitro experiments (all <14% of WT functional activity). Treatment with potentiators rescued the mutants N568D (up to 114% of WT), F629L (up to 47% of WT), and G667R (up to 60% of WT), the latter variation needing higher concentrations of genistein, showing reduced affinity of the potentiator to the mutant protein. Our results present a first proof that functional ABCA3 mutations are rescued by CFTR potentiators, making them a potential therapeutical option for patients suffering from surfactant deficiency due to ABCA3 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.