BiochemistrybioRxiv
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization
I. Gori, R. George, A. Purkiss…·C. S. Hill
This study shows that SGS mutations in SKI prevent its binding to phosphorylated SMAD2/3, leading to SKI stabilization and reduced TGF-β responses.
DOI 10.7554/elife.63545