[HTML][HTML] Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress
M Maitra, Y Wang, RD Gerard, CR Mendelson… - Journal of biological …, 2010 - ASBMB
Rare heterozygous mutations in the gene encoding surfactant protein A2 (SP-A2, SFTPA2)
are associated with adult-onset pulmonary fibrosis and adenocarcinoma of the lung. We
have previously shown that two recombinant SP-A2 mutant proteins (G231V and F198S)
remain within the endoplasmic reticulum (ER) of A549 cells and are not secreted into the
culture medium. The pathogenic mechanism of the mutant proteins is unknown. Here we
analyze all common and rare variants of the surfactant protein A2, SP-A2, in both A549 cells …
are associated with adult-onset pulmonary fibrosis and adenocarcinoma of the lung. We
have previously shown that two recombinant SP-A2 mutant proteins (G231V and F198S)
remain within the endoplasmic reticulum (ER) of A549 cells and are not secreted into the
culture medium. The pathogenic mechanism of the mutant proteins is unknown. Here we
analyze all common and rare variants of the surfactant protein A2, SP-A2, in both A549 cells …