C-terminal truncation of Pik3r1 in mice models human lipodystrophic insulin resistance uncoupled from dyslipidemia
Albert Kwok, Ilona Zvetkova, Sam Virtue, Isabel Huang-Doran, Patsy Tomlinson, David A. Bulger, Daniel Hart, Rachel Knox, Stephen Franks, Peter Voshol, Antonio Vidal-Puig, Amanda N. Sferruzzi-Perri, Jørgen Jensen, Stephen O’Rahilly, Robert K Semple
This study creates a mouse model of SHORT syndrome by introducing a Pik3r1 mutation, revealing lipodystrophic insulin resistance without dyslipidemia.
bioRxiv · Nov 24, 2017 · PreprintBiochemistry