Article
A nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling.
Traffic (Copenhagen, Denmark) - 1 Sept 2011
Beers Michael F, Hawkins Arie, Maguire Jean Ann, Kotorashvili Adam, Zhao Ming, Newitt Jennifer L, Ding Wenge, Russo Scott, Guttentag Susan, Gonzales Linda, Mulugeta Surafel
Abstract excerpt
Interstitial lung disease in both children and adults has been linked to mutations in the lung-specific surfactant protein C (SFTPC) gene. Among these, the missense mutation [isoleucine to threonine at codon 73 = human surfactant protein C (hSP-C(I73T) )] accounts for ∼30% of all described SFTPC mutations. We reported previously that unlike the BRICHOS misfolding SFTPC mutants, expression of hSP-C(I73T) induces...
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