Article
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
JCI insight - 20 Oct 2016
Huang-Doran Isabel, Tomlinson Patsy, Payne Felicity, Gast Alexandra, Sleigh Alison, Bottomley William, Harris Julie, Daly Allan, Rocha Nuno, Rudge Simon, Clark Jonathan, Kwok Albert, Romeo Stefano, McCann Emma, Müksch Barbara, Dattani Mehul, Zucchini Stefano, Wakelam Michael, Foukas Lazaros C, Savage David B, Murphy Rinki, O'Rahilly Stephen, Barroso Inês, Semple Robert K
Abstract excerpt
Obesity-related insulin resistance is associated with fatty liver, dyslipidemia, and low plasma adiponectin. Insulin resistance due to insulin receptor (INSR) dysfunction is associated with none of these, but when due to dysfunction of the downstream kinase AKT2 phenocopies obesity-related insulin resistance. We report 5 patients with SHORT syndrome and C-terminal mutations in PIK3R1, encoding the p85α/p55α/p50α...
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