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Article

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

International journal of molecular sciences - 10 Jan 2020

Toto Angelo, Malagrinò Francesca, Visconti Lorenzo, Troilo Francesca, Gianni Stefano

Abstract excerpt

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 mutations influence the stability of the inactive form of SHP2. However, one NS-causing mutation, namely T42A, occurs in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31936901
DOI: 10.3390/ijms21020461
PMCID: PMC7013464

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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