Article
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
The Journal of biological chemistry - 10 Nov 2006
Matsumura Yoshihiro, Ban Nobuhiro, Ueda Kazumitsu, Inagaki Nobuya
Abstract excerpt
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...
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