Article
PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice.
Molecular and cellular biology - 1 Aug 2014
Paardekooper Overman Jeroen, Yi Jae-Sung, Bonetti Monica, Soulsby Matthew, Preisinger Christian, Stokes Matthew P, Hui Li, Silva Jeffrey C, Overvoorde John, Giansanti Piero, Heck Albert J R, Kontaridis Maria I, den Hertog Jeroen, Bennett Anton M
Abstract excerpt
Noonan syndrome (NS) is an autosomal dominant disorder caused by activating mutations in the PTPN11 gene encoding Shp2, which manifests in congenital heart disease, short stature, and facial dysmorphia. The complexity of Shp2 signaling is exemplified by the observation that LEOPARD syndrome (LS) patients possess inactivating PTPN11 mutations yet exhibit similar symptoms to NS. Here, we identify "protein...
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