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Article

A simple and robust reporter-based framework for deep functional characterization of PPARγ mutants.

Endocrinology - 7 Apr 2026

Baak Rosalie, Westland Denise, de Lange Eline, Houtman Rene, Kalkhoven Eric

Abstract excerpt

Missense mutations in nuclear receptor (NR) transcription factors cause a number of genetic disorders, including PPARG mutations that result in familial partial lipodystrophy type 3 (FPLD3). Experimental assessment is essential to establish a newly identified mutation as disease-causing, as accurately predicting the effect of a new mutation in silico remains challenging due to the multifunctional and modular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41793069
DOI: 10.1210/endocr/bqag024
PMCID: PMC13098674

Genes

PPARG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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