Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension

@article{Barroso1999DominantNM,
  title={Dominant negative mutations in human PPAR$\gamma$ associated with severe insulin resistance, diabetes mellitus and hypertension},
  author={In{\^e}s Barroso and Mark Gurnell and V. E. F. Crowley and Maura Agostini and John W. R. Schwabe and Maria A. Soos and G. L. Maslen and T. D. M. Williams and H. Lewis and Alan J. Schafer and Vengalil Krishna Chatterjee and Stephen O’Rahilly},
  journal={Nature},
  year={1999},
  volume={402},
  pages={880-883}
}
Thiazolidinediones are a new class of antidiabetic agent that improve insulin sensitivity and reduce plasma glucose and blood pressure in subjects with type 2 diabetes. Although these agents can bind and activate an orphan nuclear receptor, peroxisome proliferator-activated receptor gamma (PPARγ), there is no direct evidence to conclusively implicate this receptor in the regulation of mammalian glucose homeostasis. Here we report two different heterozygous mutations in the ligand-binding domain… Expand
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