PPARγ mutations, lipodystrophy and diabetes

Author:

Astapova Olga,Leff Todd

Abstract

AbstractThe 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.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Molecular Biology,General Medicine,Endocrinology, Diabetes and Metabolism

Reference114 articles.

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