Related Experiment Video
Updated: Feb 11, 2026

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Mouse Model of Metabolic Dysfunction-Associated Steatotic Liver Disease with Fibrosis
Published on: July 18, 2025
893
New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.
Fiammetta Piersigilli1, Donatella Peca2, Francesca Campi1
1Department of Medical and Surgical Neonatology.
Summary
Mutations in the ATP-binding cassette A3 (ABCA3) gene can cause respiratory distress syndrome (RDS) in newborns. This case highlights variable disease severity in twins with the same ABCA3 mutations, suggesting genetic or sex-based influences.
Area of Science:
- Genetics
- Neonatology
- Pulmonology
Background:
- Respiratory distress syndrome (RDS) in term and near-term infants can stem from genetic mutations affecting surfactant proteins.
- ATP-binding cassette A3 (ABCA3) protein, crucial for phospholipid transport in alveolar epithelium, is frequently implicated in these genetic forms of RDS.
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