Article
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.
The Journal of biological chemistry - 3 Aug 2012
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
Abstract excerpt
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 possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the...
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