Article
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.
Cell metabolism - 1 Oct 2006
Agostini Maura, Schoenmakers Erik, Mitchell Catherine, Szatmari Istvan, Savage David, Smith Aaron, Rajanayagam Odelia, Semple Robert, Luan Jian'an, Bath Louise, Zalin Anthony, Labib Mourad, Kumar Sudhesh, Simpson Helen, Blom Dirk, Marais David, Schwabe John, Barroso Inês, Trembath Richard, Wareham Nicholas, Nagy Laszlo, Gurnell Mark, O'Rahilly Stephen, Chatterjee Krishna
Abstract excerpt
PPARgamma is essential for adipogenesis and metabolic homeostasis. We describe mutations in the DNA and ligand binding domains of human PPARgamma in lipodystrophic, severe insulin resistance. These receptor mutants lack DNA binding and transcriptional activity but can translocate to the nucleus,...
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