Rationale: Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause
lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 …

Mutations in the ATP-binding cassette transporter A3 gene (ABCA3) result in severe
neonatal respiratory distress syndrome and childhood interstitial lung disease. As most …

ABCA3 is a member of the ATP Binding Cassette family of proteins, transporters that
hydrolyze ATP in order to move substrates across biological membranes. Mutations in the …

Background Knowledge about the clinical spectrum of lung disease caused by variations in
the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe …

Methods: ABCA3-specific cDNA was generated and sequenced from frozen lung tissue from
a child with fatal lung disease with only one identified ABCA3 mutation. ABCA3 was …

Background The majority of patients with childhood interstitial lung disease (chILD) caused
by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop …

ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of
alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis. ABCA3 …

Background: Mutations in the ABCA3 gene can result in fatal surfactant deficiency in term
newborn infants and chronic interstitial lung disease in older children. Previous studies on …

Rationale: ABCA3 is a member of the ATP-binding cassette family of proteins that mediate
the translocation of a wide variety of substrates, including lipids, across cellular membranes …

BACKGROUND AND OBJECTIVE: Neonatal respiratory distress syndrome (RDS) due to
pulmonary surfactant deficiency is heritable, but common variants do not fully explain …