title: PPARγ mutations, lipodystrophy and diabetes.
abstract: The focus of this review is the lipodystrophy syndrome caused by mutation in the PPARγ nuclear receptor - partial familial lipodystrophy FPLD3. To provide a broader context for how these mutations act to generate the clinical features of partial lipodystrophy we will review the basic biology of PPARγ and also survey the set PPARγ genetic variants that do not cause lipodystrophy, but are nonetheless associated with clinically related syndromes, specifically type 2 diabetes.
authors.forename: Olga
authors.initials: O
authors.lastname: Astapova
authors.forename: Todd
authors.initials: T
authors.lastname: Leff
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000150:complications* / Q000235:genetics; D014644:Genetic Variation / Q000502:physiology*; D006801:Humans; D008060:Lipodystrophy / Q000150:complications* / Q000235:genetics; D009154:Mutation / Q000235:genetics / Q000502:physiology; D047495:PPAR gamma / Q000235:genetics / Q000378:metabolism*
chemical_list: D047495:PPAR gamma