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Article

Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome.

PloS one - 1 Jan 2014

Paardekooper Overman Jeroen, Preisinger Christian, Prummel Karin, Bonetti Monica, Giansanti Piero, Heck Albert, den Hertog Jeroen

Abstract excerpt

Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, hypertelorism and heart defects. More than 50% of NS and almost all of LS cases are caused by activating and inactivating mutations of the phosphatase Shp2, respectively. How these biochemically opposing mutations lead to similar clinical outcomes is not clear. Using zebrafish models of NS and LS and mass...

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Identifiers

PMID: 25184253
DOI: 10.1371/journal.pone.0106682
PMCID: PMC4153654

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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