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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Bibliographic Details
Main Authors: 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
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2012
Subjects:
Molecular Bases of Disease
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3411048/
https://ncbi.nlm.nih.gov/pubmed/22711529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.350231
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