Kwok, Albert; Zvetkova, Ilona; Virtue, Samuel; Luijten, Ineke; Huang-Doran, Isabel; Tomlinson, Patsy; Bulger, David A.; West, James; Murfitt, Steven; Griffin, Julian; Alam, Rafeah; Hart, Daniel; Knox, Rachel; Voshol, Peter; Vidal-Puig, Antonio; Jensen, Jørgen; O'Rahilly, Stephen; Semple, Robert K. (Peer reviewed; Journal article, 2020)
Objective: Insulin signalling via phosphoinositide 3-kinase (PI3K) requires PIK3R1-encoded regulatory subunits. C-terminal PIK3R1 mutations cause SHORT syndrome, as well as lipodystrophy and insulin resistance (IR), ...