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An SFTPC BRICHOS mutant links epithelial ER stress and spontaneous lung fibrosis.
Katzen J, Wagner BD, Venosa A, Kopp M, Tomer Y, Russo SJ, Headen AC, Basil MC, Stark JM, Mulugeta S, Deterding RR, Beers MF. Katzen J, et al. JCI Insight. 2019 Mar 21;4(6):e126125. doi: 10.1172/jci.insight.126125. eCollection 2019 Mar 21. JCI Insight. 2019. PMID: 30721158 Free PMC article.
The common ABCA3E292V variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.
Tomer Y, Wambach J, Knudsen L, Zhao M, Rodriguez LR, Murthy A, White FV, Venosa A, Katzen J, Ochs M, Hamvas A, Beers MF, Mulugeta S. Tomer Y, et al. Am J Physiol Lung Cell Mol Physiol. 2021 Aug 1;321(2):L291-L307. doi: 10.1152/ajplung.00400.2020. Epub 2021 Jun 16. Am J Physiol Lung Cell Mol Physiol. 2021. PMID: 34132118 Free PMC article.