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Gain-of-function mutations in the protein tyrosine phosphatase Ptpn11 (SHP2) induce hydrocephalus in a catalytically-dependent manner

Catalytically activating mutations in Ptpn11, which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan Syndrome (NS) cases, whereas inactivating mutations in Ptpn11 are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan Syndrome with Multiple...

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Detalhes bibliográficos
Publicado no:Sci Signal
Main Authors: Zheng, Hong, Yu, Wen-Mei, Waclaw, Ronald R., Kontaridis, Maria I., Neel, Benjamin G., Qu, Cheng-Kui
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5915342/
https://ncbi.nlm.nih.gov/pubmed/29559584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scisignal.aao1591
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