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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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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | 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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