[HTML][HTML] Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome
N Cheong, M Madesh, LW Gonzales, M Zhao… - Journal of Biological …, 2006 - ASBMB
Members of the ATP binding cassette (ABC) protein superfamily actively transport a wide
range of substrates across cell and intracellular membranes. Mutations in ABCA3, a member
of the ABCA subfamily with unknown function, lead to fatal respiratory distress syndrome
(RDS) in the newborn. Using cultured human lung cells, we found that recombinant wild-
type hABCA3 localized to membranes of both lysosomes and lamellar bodies, which are the
intracellular storage organelles for surfactant. In contrast, hABCA3 with mutations linked to …
range of substrates across cell and intracellular membranes. Mutations in ABCA3, a member
of the ABCA subfamily with unknown function, lead to fatal respiratory distress syndrome
(RDS) in the newborn. Using cultured human lung cells, we found that recombinant wild-
type hABCA3 localized to membranes of both lysosomes and lamellar bodies, which are the
intracellular storage organelles for surfactant. In contrast, hABCA3 with mutations linked to …