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Article

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.

Diabetes - 1 Dec 2002

Hegele Robert A, Cao Henian, Frankowski Christy, Mathews Suresh T, Leff Todd

Abstract excerpt

Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple metabolic disturbances, including insulin resistance and dyslipidemia. There is emerging evidence that some rare mutations in peroxisome proliferator-activated receptor-gamma (PPAR-gamma), encoded by PPARG, might be associated with human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12453919
DOI: 10.2337/diabetes.51.12.3586

Genes

PPARG
LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.PMID 12453919Read ↗

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Familial partial lipodystrophy linked to a novel peroxisome proliferator activator receptor -γ (PPARG) mutation, H449L: a comparison of people with this mutation and those with classic codon 482 Lamin A/C (LMNA) mutations.Semantic proximity Read ↗

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