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Article

Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.

Frontiers in endocrinology - 1 Jan 2024

Soares Reivla Marques Vasconcelos, da Silva Monique Alvares, Campos Julliane Tamara Araújo de Melo, Lima Josivan Gomes

Abstract excerpt

The PPARG gene encodes a member of a nuclear receptor superfamily known as peroxisome proliferator-activated gamma (PPARγ). PPARγ plays an essential role in adipogenesis, stimulating the differentiation of preadipocytes into adipocytes. Loss-of-function pathogenic variants in PPARG reduce the activity of the PPARγ receptor and can lead to severe metabolic consequences associated with familial partial...

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Identifiers

PMID: 39398333
DOI: 10.3389/fendo.2024.1394102
PMCID: PMC11466747

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