Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization
I. Gori, R. George, A. Purkiss, S. Strohbuecker, R. A. Randall, R. Ogrodowicz, V. Carmignac, L. Faivre, D. Joshi, S. Kjaer, 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.
bioRxiv · Oct 7, 2020Biochemistry