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Article

The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation.

BMC pulmonary medicine - 29 Mar 2012

Zarbock Ralf, Woischnik Markus, Sparr Christiane, Thurm Tobias, Kern Sunčana, Kaltenborn Eva, Hector Andreas, Hartl Dominik, Liebisch Gerhard, Schmitz Gerd, Griese Matthias

Abstract excerpt

BACKGROUND: Surfactant protein C (SP-C) is important for the function of pulmonary surfactant. Heterozygous mutations in SFTPC, the gene encoding SP-C, cause sporadic and familial interstitial lung disease (ILD) in children and adults. Mutations mapping to the BRICHOS domain located within the SP-C proprotein result in perinuclear aggregation of the proprotein. In this study, we investigated the effects of the...

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Source

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Identifiers

PMID: 22458263
DOI: 10.1186/1471-2466-12-15
PMCID: PMC3376036

Genes

CCR2
CXCR1
SFTPC

Provenance

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