New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3

Pediatrics International

Volumn 57, Issue 5, 2015, Pages 970-974

  Piersigilli, Fiammetta ^a,c   Peca, Donatella ^a   Campi, Francesca ^a   Corsello, Mirta ^a   Landolfo, Francesca ^a   Boldrini, Renata ^a   Danhaive, Olivier ^a,b   Dotta, Andrea ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Department of Pediatrics   (United States)

Author keywords

ABCA3; neonate; respiratory distress syndrome

Indexed keywords

ABC TRANSPORTER; ATP BINDING CASSETTE A3 PROTEIN; BETAMETHASONE; CORTICOSTEROID; HYDROXYCHLOROQUINE; NITRIC OXIDE; PORACTANT; UNCLASSIFIED DRUG; ABCA3 PROTEIN, HUMAN; DNA;

ABCA3 DEFICIENCY; AMINO ACID SUBSTITUTION; ARTICLE; ARTIFICIAL VENTILATION; ATP BINDING CASSETTE A3 GENE; BACTERIAL PNEUMONIA; CASE REPORT; FEMALE; GENE MUTATION; HUMAN; HYPOXEMIA; INFANT; INTERSTITIAL PNEUMONIA; INTRACYTOPLASMIC SPERM INJECTION; LUNG BIOPSY; LUNG DISEASE; MALE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; OXYGEN THERAPY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTEIN DEFECT; RESPIRATORY FAILURE; SURFACTANT METABOLISM DYSFUNCTION PULMONARY TYPE 3; THORAX RADIOGRAPHY; TRACHEOSTOMY; TWINS; BRONCHOGRAPHY; DIFFERENTIAL DIAGNOSIS; DNA MUTATIONAL ANALYSIS; FATALITY; GENETICS; LUNG ALVEOLUS; LUNG DISEASES, INTERSTITIAL; METABOLISM; MUTATION; NEWBORN; PULMONARY ALVEOLAR PROTEINOSIS; TERM BIRTH; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ATP-BINDING CASSETTE TRANSPORTERS; BRONCHOGRAPHY; DIAGNOSIS, DIFFERENTIAL; DISEASES IN TWINS; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; LUNG DISEASES, INTERSTITIAL; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; PULMONARY ALVEOLAR PROTEINOSIS; PULMONARY ALVEOLI; RADIOGRAPHY, THORACIC; TERM BIRTH;

EID: 84983097938     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12673     Document Type: Article

References (10)

1. Balasubramanyan N, Murphy A, O'Sullivan J, O'Connell EJ,. Familial interstitial lung disease in children: Response to chloroquine treatment in one sibling with desquamative interstitial pneumonitis. Pediatr. Pulmonol. 1997; 23: 55-61.
2. Garmany TH, Moxley MA, White FV, et al,. Surfactant composition and function in patients with ABCA3 mutations. Pediatr. Res. 2006; 59: 801-5.
3. Wambach JA, Wegner DJ, Depass K, et al,. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics 2012; 130: e1575-82.
4. Bækvad-Hansen M, Nordestgaard BG, Dahl M,. Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. Respir. Res. 2012; 13: 67.
5. Beers MF, Zhao M, Tomer Y, et al,. Disruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3. Am. J. Physiol. Lung Cell. Mol. Physiol. 2013; 305: L970-80.
6. Winter J, Essmann S, Kidszun A, et al,. Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: A systematic evaluation of therapeutic options. Klin. Padiatr. 2014; 226: 53-8.
7. Matsumura Y, Ban N, Ueda K, Inagaki N,. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J. Biol. Chem. 2006; 281: 34503-14.
8. Yoshida I, Ban N, Inagaki N,. Expression of ABCA3, a causative gene for fatal surfactant deficiency, is up-regulated by glucocorticoids in lung alveolar type II cells. Biochem. Biophys. Res. Commun. 2004; 323: 547-55.
9. Wambach JA, Casey AM, Fishman MP, et al,. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am. J. Respir. Crit. Care Med. 2014; 189: 1538-43.
10. Shinkai M, Henke MO, Rubin BK,. Macrolide antibiotics as immunomodulatory medications: Proposed mechanisms of action. Pharmacol. Ther. 2008; 117: 393-405.