Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome

Activating mutations in PTPN11 cause Noonan syndrome, the most common nonchromosomal disorder affecting development and growth. PTPN11 encodes SHP2, an Src homology 2 (SH2) domain-containing protein-tyrosine phosphatase that positively modulates RAS function. Here, we characterized functionally all...

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Detalles Bibliográficos
Autores principales: Martinelli, Simone, Nardozza, Aurelio P., Delle Vigne, Silvia, Sabetta, Gilda, Torreri, Paola, Bocchinfuso, Gianfranco, Flex, Elisabetta, Venanzi, Serenella, Palleschi, Antonio, Gelb, Bruce D., Cesareni, Gianni, Stella, Lorenzo, Castagnoli, Luisa, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2012
Materias:
Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411048/
https://www.ncbi.nlm.nih.gov/pubmed/22711529
http://dx.doi.org/10.1074/jbc.M112.350231

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