2021
Sex-dependent role for EPHB2 in brain development and autism-associated behavior
Assali A, Cho JY, Tsvetkov E, Gupta AR, Cowan CW. Sex-dependent role for EPHB2 in brain development and autism-associated behavior. Neuropsychopharmacology 2021, 46: 2021-2029. PMID: 33649502, PMCID: PMC8429442, DOI: 10.1038/s41386-021-00986-8.Peer-Reviewed Original ResearchConceptsLayer V pyramidal neuronsAutism spectrum disorderSex-dependent roleAutism-associated behaviorsAttention deficit hyperactivity disorderPathophysiology of ASDSex-specific effectsNovo nonsense mutationFemale patientsPyramidal neuronsMotor hyperactivityIntrinsic excitabilityCortical functionRepetitive behaviorsSynaptic plasticityRelated disordersMemory deficitsBrain developmentHypofunctionReceptor tyrosine kinasesMiceHyperactivity disorderIntellectual disabilityDisordersEphB2
2012
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.Peer-Reviewed Original ResearchMeSH Keywords3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)AdolescentAmino Acids, Branched-ChainAnimalsArginineAutistic DisorderBase SequenceBrainChildChild, PreschoolDietEpilepsyFemaleHomozygoteHumansIntellectual DisabilityMaleMiceMice, KnockoutMolecular Sequence DataMutationPedigreePhosphorylationProtein FoldingProtein Structure, TertiaryRNA, MessengerYoung AdultConceptsBranched-chain ketoacid dehydrogenaseBrain amino acid profilesPlasma branched-chain amino acidsIntellectual disabilityBranched-chain amino acidsTreatable syndromeNeurobehavioral deficitsTreatable formSomatic treatmentsDietary supplementationKnockout miceEpilepsyPhosphorylation-mediated inactivationConsanguineous familyReciprocal social interactionSyndromeKetoacid dehydrogenaseAmino acid profileMessenger RNAAutism spectrum disorderE1α phosphorylationDisabilitySpectrum disorderHeterogeneous constellationAcid profile