Article
A lipodystrophy-causing lamin A mutant alters conformation and epigenetic regulation of the anti-adipogenic MIR335 locus.
The Journal of cell biology - 4 Sept 2017
Oldenburg Anja, Briand Nolwenn, Sørensen Anita L, Cahyani Inswasti, Shah Akshay, Moskaug Jan Øivind, Collas Philippe
Abstract excerpt
Mutations in the Lamin A/C (LMNA) gene-encoding nuclear LMNA cause laminopathies, which include partial lipodystrophies associated with metabolic syndromes. The lipodystrophy-associated LMNA p.R482W mutation is known to impair adipogenic differentiation, but the mechanisms involved are unclear. We show in this study that the lamin A p.R482W hot spot mutation prevents adipogenic gene expression by epigenetically...
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