Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene
MF Beers, L Knudsen, Y Tomer, J Maronn… - Annals of Anatomy …, 2017 - Elsevier
The lipid transporter, ATP binding cassette class A3 (ABCA3), plays a critical role in the
biogenesis of alveolar type 2 (AT2) cell lamellar bodies (LBs). A relatively large number of
mutations in the ABCA3 gene have been identified in association with diffuse parenchymal
lung disease (DPLD), the most common of which is a missense mutation (valine substitution
for lysine at residue 292 (ABCA3 E292V)) that leads to functional impairment of the
transporter in vitro. The consequences of ABCA3 E292 V gene expression in vivo are …
biogenesis of alveolar type 2 (AT2) cell lamellar bodies (LBs). A relatively large number of
mutations in the ABCA3 gene have been identified in association with diffuse parenchymal
lung disease (DPLD), the most common of which is a missense mutation (valine substitution
for lysine at residue 292 (ABCA3 E292V)) that leads to functional impairment of the
transporter in vitro. The consequences of ABCA3 E292 V gene expression in vivo are …
