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: Huiyan Huang, Jiehong Pan, David R. Spielberg, Neil A. Hanchard, Daryl A. Scott, Lindsay C. Burrage, Hongzheng Dai, David Murdock, Jill A. Rosenfeld, Ariz Mohammad, Tao Huang, Anika G. Lindsey, Hyori Kim, Jian Chen, Avinash Ramu, Stephanie A. Morrison, Za Tags: Genetics Biological Sciences Source Type: research