Article

Lentiviral-mediated gene complementation rescues pathogenic <i>ABCA3</i> variants

2025-08-30

Abstract excerpt

<h4>ABSTRACT</h4> The ATP-binding cassette subfamily A member 3 (ABCA3) protein on the limiting membrane of lamellar bodies in alveolar type 2 (AT2) cells transports phospholipids required for pulmonary surfactant assembly. ABCA3 deficiency results from biallelic pathogenic variants in ABCA3 and causes progressive neonatal respiratory failure or childhood interstitial lung disease (chILD). Supportive/compassiona...

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Literature Corpus work: 9f3b95c0-1294-5a8c-b2c8-df43e9d4bfac
DOI: 10.1101/2025.08.29.673150

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