Article
ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease.
Seminars in perinatology - 1 Dec 2006
Bullard Janine E, Wert Susan E, Nogee Lawrence M
Abstract excerpt
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 gene encoding ABCA3 have been found in children with severe neonatal respiratory disease and older children with some forms of interstitial lung disease. This review summarizes current knowledge concerning clinical, genetic, and pathologic...
Topics
- ATP-Binding Cassette Transporters
- Humans
- Infant
- Infant, Newborn
- Lung
- Lung Diseases, Interstitial
- Microscopy, Electron
- Models, Biological
- Mutation
- Respiratory Distress Syndrome, Newborn