[HTML][HTML] Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency
Y Matsumura, N Ban, K Ueda, N Inagaki - Journal of biological chemistry, 2006 - ASBMB
The ATP-binding cassette transporter ABCA3 is expressed predominantly at the limiting
membrane of the lamellar bodies in lung alveolar type II cells. Recent study has shown that
mutation of the ABCA3 gene causes fatal surfactant deficiency in newborns. In this study, we
investigated in HEK293 cells the intracellular localization and N-glycosylation of the ABCA3
mutants so far identified in fatal surfactant deficiency patients. Green fluorescent protein-
tagged L101P, L982P, L1553P, Q1591P, and Ins1518fs/ter1519 mutant proteins remained …
membrane of the lamellar bodies in lung alveolar type II cells. Recent study has shown that
mutation of the ABCA3 gene causes fatal surfactant deficiency in newborns. In this study, we
investigated in HEK293 cells the intracellular localization and N-glycosylation of the ABCA3
mutants so far identified in fatal surfactant deficiency patients. Green fluorescent protein-
tagged L101P, L982P, L1553P, Q1591P, and Ins1518fs/ter1519 mutant proteins remained …