Biologic Characterization of ABCA3 Variants in Lung Tissue from Infants and Children with ABCA3 Deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric pulmonology"
DOI: 10.1002/ppul.25862
Abstract: ABCA3 is a phospholipid transporter protein required for surfactant assembly in lamellar bodies of alveolar type II cells. Biallelic pathogenic ABCA3 variants cause severe neonatal respiratory distress syndrome or childhood interstitial lung disease. However, ABCA3… read more here.
Keywords: children abca3; biologic characterization; abca3; lung tissue ... See more keywords
Quantifying Functional Impairment of ABCA3 Variants Associated with Interstitial Lung Disease
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24087554
Abstract: ATP-binding cassette subfamily A member 3 (ABCA3) is a lipid transporter within alveolar type II cells. Patients with bi-allelic variants in ABCA3 may suffer from a variable severity of interstitial lung disease. We characterized and… read more here.
Keywords: abca3; lung disease; abca3 variants; interstitial lung ... See more keywords