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Article

Functional rescue of misfolding ABCA3 mutations by small molecular correctors

5 Jan 2018

Abstract excerpt

Adenosine triphosphate (ATP)-binding cassette subfamily A member 3 (ABCA3), a phospholipid transporter in lung lamellar bodies (LBs), is essential for the assembly of pulmonary surfactant and LB biogenesis. Mutations in the ABCA3 gene are an important genetic cause for respiratory distress syndrome in neonates and interstitial lung disease in children and adults, for which there is currently no cure. The aim of...

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PMID: 29325094
DOI: 10.1093/hmg/ddy011

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