Molecular defects in some ultra-rare subtypes of familial lipodystrophies remain unidentified. We identified novel NOTCH3 heterozygous variants in familial partial lipodystrophy (FPL) pedigrees. All variants were clustered in the heterodimerization domain of the negative regulatory region of NOTCH3. Proteomics of skin fibroblasts revealed significantly higher RNA expression of NOTCH3 and activation of widespread senescence pathways in the FPL patients versus controls.
[doi:10.25345/C56970924]
[dataset license: CC0 1.0 Universal (CC0 1.0)]
Keywords: Lipodystrophy, NOTCH3 ; DatasetType:Proteomics
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Abhimanyu Garg, University of Texas Southwestern Medical Center, USA |
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