Genetic basis of familial interstitial lung disease: Misfolding or function of surfactant protein C?

American Journal of Respiratory and Critical Care Medicine

Volumn 165, Issue 9, 2002, Pages 1201-1202

  Whitsett, Jeffrey A ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; LEUCINE; PROTEIN C;

AMINO ACID SUBSTITUTION; EDITORIAL; FAMILIAL DISEASE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; INTERSTITIAL LUNG DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FOLDING;

ANIMALS; HUMANS; LUNG DISEASES, INTERSTITIAL; MICE; MUTATION; PROTEIN FOLDING; PROTEOLIPIDS; PULMONARY FIBROSIS; PULMONARY SURFACTANTS;

EID: 0036569894     PISSN: 1073449X     EISSN: None     Source Type: Journal    
DOI: 10.1164/rccm.2203017     Document Type: Editorial

References (8)

1. Heterozygosity for a surfactant protein c gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred
2. A mutation in the surfactant protein C (SP-C) gene associated with interstitial lung disease
3. Surfactant protein deficiency in familial interstitial lung disease
4. Biosynthesis of surfactant protein C: Characterization of aggresome formation by EGFP chimeras containing propeptide mutants lacking conserved cysteine residues
5. Altered stability of pulmonary surfactant in SP-C deficient mice
6. Structure and functions of a dimeric form of surfactant protein SP-C: A fourier transform infrared and surfactometry study
7. Amyloid fibril formation by pulmonary surfactant protein C
8. Overexpression of SP-C mature SP-C peptide causes neonatal lethality in transgenic mice