Article
The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks.
Human molecular genetics - 15 Apr 2018
Briand Nolwenn, Guénantin Anne-Claire, Jeziorowska Dorota, Shah Akshay, Mantecon Matthieu, Capel Emilie, Garcia Marie, Oldenburg Anja, Paulsen Jonas, Hulot Jean-Sebastien, Vigouroux Corinne, Collas Philippe
Abstract excerpt
The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early onset atherosclerosis. Molecular mechanisms underlying endothelial cell dysfunction conferred by the lamin A mutation remain elusive. However, lamin A regulates epigenetic developmental pathways and mutations could perturb these functions. Here, we...
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