Ontology highlight
ABSTRACT:
SUBMITTER: Katzen J
PROVIDER: S-EPMC6483196 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Katzen Jeremy J Wagner Brandie D BD Venosa Alessandro A Kopp Meghan M Tomer Yaniv Y Russo Scott J SJ Headen Alvis C AC Basil Maria C MC Stark James M JM Mulugeta Surafel S Deterding Robin R RR Beers Michael F MF
JCI insight 20190321 6
Alveolar type 2 (AT2) cell endoplasmic reticulum (ER) stress is a prominent feature in adult and pediatric interstitial lung disease (ILD and ChILD), but in vivo models linking AT2 cell ER stress to ILD have been elusive. Based on a clinical ChILD case, we identified a critical cysteine residue in the surfactant protein C gene (SFTPC) BRICHOS domain whose mutation induced ER stress in vitro. To model this in vivo, we generated a knockin mouse model expressing a cysteine-to-glycine substitution a ...[more]