Article
Functional implications of genetic variation in human PPARgamma.
Trends in endocrinology and metabolism: TEM - 1 Oct 2009
Jeninga Ellen H, Gurnell Mark, Kalkhoven Eric
Abstract excerpt
The peroxisome proliferator-activated receptor gamma (PPARgamma) plays a key role in the regulation of lipid and glucose metabolism. Human genetic evidence supporting this view comes from the study of both common (e.g. the Pro12Ala polymorphism) and rare (loss-of-function mutations) variants in the gene encoding PPARgamma. Indeed, patients harbouring mutant PPARgamma exhibit familial partial lipodystrophy type 3...
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