Article
ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.
Biochemical Society transactions - 1 Oct 2015
Peca Donatella, Cutrera Renato, Masotti Andrea, Boldrini Renata, Danhaive Olivier
Abstract excerpt
Genetic disorders of the surfactant system are rare diseases with a broad range of clinical manifestations, from fatal respiratory distress syndrome (RDS) in neonates to chronic interstitial lung disease (ILD) in children and adults. ABCA3 [ATP-binding cassette (ABC), subfamily A, member 3] is a lung-specific phospholipid transporter critical for intracellular surfactant synthesis and storage in lamellar bodies...
Topics
- ATP-Binding Cassette Transporters
- Gene Expression Regulation, Developmental
- Genetic Predisposition to Disease
- Humans
- Infant, Newborn
- Lung
- Mutation
- Pulmonary Surfactants
- Respiratory Distress Syndrome, Newborn