Article
A non-BRICHOS surfactant protein c mutation disrupts epithelial cell function and intercellular signaling.
BMC cell biology - 20 Nov 2010
Woischnik Markus, Sparr Christiane, Kern Sunčana, Thurm Tobias, Hector Andreas, Hartl Dominik, Liebisch Gerhard, Mulugeta Surafel, Beers Michael F, Schmitz Gerd, Griese Matthias
Abstract excerpt
BACKGROUND: Heterozygous mutations of SFTPC, the gene encoding surfactant protein C (SP-C), cause sporadic and familial interstitial lung disease (ILD) in children and adults. The most frequent SFTPC mutation in ILD patients leads to a threonine for isoleucine substitution at position 73 (I73T) of the SP-C preprotein (proSP-C), however little is known about the cellular consequences of SP-CI73T expression....
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