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
ATP binding cassette member A3 (ABCA3): coming of age
Sign Up to like & getrecommendations! Published in 2023 at "Thorax"
DOI: 10.1136/thorax-2022-219972
Abstract: Pathogenic variants in the ATP binding cassette member A3 (ABCA3) gene were first described in newborn infants with lethal respiratory failure in 2004. 1 Subsequent reports have expanded the clinical spectrum associated with biallelic ABCA3… read more here.
Keywords: abca3; member abca3; cassette member; atp binding ... See more keywords
Alveolar injury and regeneration following deletion of ABCA3.
Sign Up to like & getrecommendations! Published in 2017 at "JCI insight"
DOI: 10.1172/jci.insight.97381
Abstract: Adaptation to air breathing after birth is dependent upon the synthesis and secretion of pulmonary surfactant by alveolar type 2 (AT2) cells. Surfactant, a complex mixture of phospholipids and proteins, is secreted into the alveolus,… read more here.
Keywords: abca3; deletion abca3; alveolar injury; lung ... 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