Article
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Journal of cellular and molecular medicine - 1 May 2009
Verstraeten Valerie L R M, Caputo Sandrine, van Steensel Maurice A M, Duband-Goulet Isabelle, Zinn-Justin Sophie, Kamps Miriam, Kuijpers Helma J H, Ostlund Cecilia, Worman Howard J, Briedé Jacob J, Le Dour Caroline, Marcelis Carlo L M, van Geel Michel, Steijlen Peter M, van den Wijngaard Arthur, Ramaekers Frans C S, Broers Jos L V
Abstract excerpt
Dunnigan-type familial partial lipodystrophy (FPLD) is a laminopathy characterized by an aberrant fat distribution and a metabolic syndrome for which oxidative stress has recently been suggested as one of the disease-causing mechanisms. In a family affected with FPLD, we identified a heterozygous missense mutation c.1315C>T in the LMNA gene leading to the p.R439C substitution. Cultured patient fibroblasts do not...
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