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NOTCH3 missense variants cause familial partial lipodystrophy

ABSTRACT: 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.

INSTRUMENT(S): Thermo Orbitrap Eclipse

ORGANISM(S): Human

SUBMITTER: Abhimanyu Garg

PROVIDER: MSV000096235 | MassIVE | Mon Oct 28 15:18:00 GMT 2024

REPOSITORIES: MassIVE

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