Unveiling the Molecular Basis of the Noonan Syndrome-Causing Mutation T42A of SHP2

Noonan syndrome (NS) is a genetic disorder caused by the hyperactivation of the RAS-MAPK molecular pathway. About 50% of NS cases are caused by mutations affecting the SHP2 protein, a multi-domain phosphatase with a fundamental role in the regulation of the RAS-MAPK pathway. Most NS-causing mutation...

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Detaylı Bibliyografya
Yayımlandı:Int J Mol Sci
Asıl Yazarlar: Toto, Angelo, Malagrinò, Francesca, Visconti, Lorenzo, Troilo, Francesca, Gianni, Stefano
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2020
Konular:
Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7013464/
https://ncbi.nlm.nih.gov/pubmed/31936901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21020461
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