2018
Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function
Levy AD, Xiao X, Shaw JE, Devi S, Katrancha SM, Bennett AM, Greer CA, Howe JR, Machida K, Koleske AJ. Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function. Cell Reports 2018, 24: 1523-1535. PMID: 30089263, PMCID: PMC6234505, DOI: 10.1016/j.celrep.2018.07.006.Peer-Reviewed Original ResearchConceptsTyrosine phosphatase SHP2Noonan syndromePhosphatase SHP2Regulatory proteinsSHP2Recombinant GluN1Nck2Receptor functionNMDA receptor functionNMDAR functionGluN2B functionMutationsNMDAR dysfunctionNeuron functionNS miceGluN1ProteinAllelesNMDA receptorsDiheteromersReceptor kineticsReduced contributionsFunctionHyperactivationMice
2016
Low-dose dasatinib rescues cardiac function in Noonan syndrome
Yi JS, Huang Y, Kwaczala AT, Kuo IY, Ehrlich BE, Campbell SG, Giordano FJ, Bennett AM. Low-dose dasatinib rescues cardiac function in Noonan syndrome. JCI Insight 2016, 1: e90220. PMID: 27942593, PMCID: PMC5135272, DOI: 10.1172/jci.insight.90220.Peer-Reviewed Original ResearchConceptsNoonan syndromeSrc homology 2 domain-containing protein tyrosine phosphatase 2NS miceLow-dose dasatinib treatmentLow-dose dasatinibTyrosine kinase inhibitorsHearts of miceAutosomal dominant disorderCommon targetCardiac fibrosisDasatinib treatmentCardiac functionCardiomyocyte contractilityLow doseCardiac abnormalitiesShort statureNS casesNSML miceCommon autosomal dominant disorderMultiple lentiginesCraniofacial dysmorphismKinase inhibitorsMiceDasatinibProtein zero