A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C [Genetics]

Pathogenic variants in surfactant proteins SP-B and SP-C cause surfactant deficiency and interstitial lung disease. Surfactant proteins are synthesized as precursors (proSP-B, proSP-C), trafficked, and processed via a vesicular-regulated secretion pathway; however, control of vesicular trafficking events is not fully understood. Through the Undiagnosed Diseases Network, we evaluated a child...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Genetics Biological Sciences Source Type: research