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Article

New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand

31 Aug 2007

Abstract excerpt

PURPOSE: Familial partial lipodystrophy caused by mutations in the PPARG gene is characterised by altered distribution of subcutaneous fat, muscular hypertrophy and symptoms of metabolic syndrome. PPARG encodes peroxisome proliferator-activated receptor (PPAR)gamma, a nuclear hormone receptor playing a crucial role in lipid and glucose metabolism and in several other cellular regulatory processes. METHODS: PPARG...

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Identifiers

PMID: 17766367
DOI: 10.1136/jmg.2007.050567

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