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

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

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 activi...

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Bibliographic Details
Main Authors: Reivla Marques Vasconcelos Soares, Monique Alvares da Silva, Julliane Tamara Araújo de Melo Campos, Josivan Gomes Lima
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-09-01
Series:Frontiers in Endocrinology
Subjects:
PPAR gamma
adipose tissue
genetic lipodystrophy
insulin resistance
diabetes mellitus
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1394102/full
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https://www.frontiersin.org/articles/10.3389/fendo.2024.1394102/full

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