Article
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.
Molecular and cellular biology - 1 May 2010
Edouard Thomas, Combier Jean-Philippe, Nédélec Audrey, Bel-Vialar Sophie, Métrich Mélanie, Conte-Auriol Francoise, Lyonnet Stanislas, Parfait Béatrice, Tauber Maithé, Salles Jean-Pierre, Lezoualc'h Frank, Yart Armelle, Raynal Patrick
Abstract excerpt
LEOPARD syndrome (LS), a disorder with multiple developmental abnormalities, is mainly due to mutations that impair the activity of the tyrosine phosphatase SHP2 (PTPN11). How these alterations cause the disease remains unknown. We report here that fibroblasts isolated from LS patients displayed stronger epidermal growth factor (EGF)-induced phosphorylation of both AKT and glycogen synthase kinase 3beta...
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