Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling

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 str...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: American Society for Microbiology (ASM) 2010
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2863708/
https://ncbi.nlm.nih.gov/pubmed/20308328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00646-09
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