Search results for "PPP2R5D"

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The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

2021

PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. METHODS: Most cases were identified through routine clinical diagnostics. Variants were biochemically characterized for phosphatase activity and interaction with other PP2A subunits. RESULTS: We describe 30 individuals with 16 different variants in PPP2R1A, 21 of whom had variants not previously reported. The severity of developmental delay …

0301 basic medicineMicrocephaly[SDV]Life Sciences [q-bio]Intellectual disability030105 genetics & heredityBioinformaticsEpilepsyNeurodevelopmental disorderIntellectual disabilityCOREProtein Phosphatase 2SPECIFICITYGenetics (clinical)PROTEIN PHOSPHATASE 2APhenotypeHypotoniaFAMILY3. Good healthPP2A[SDV] Life Sciences [q-bio]PPP2R1APPP2R5DINSIGHTSintellectual disabilityMicrocephalyMuscle Hypotoniamedicine.symptomLanguage delay[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsArticle03 medical and health sciencesNeurodevelopmental disorder[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologymedicineHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyEpilepsybusiness.industryMacrocephalyDEPHOSPHORYLATIONmedicine.diseaseneurodevelopmental disorder030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsNeurodevelopmental DisordersSUBUNITepilepsyHuman medicineTAUbusinessTranscription Factors

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