2014
Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice
Baldan LC, Williams KA, Gallezot JD, Pogorelov V, Rapanelli M, Crowley M, Anderson GM, Loring E, Gorczyca R, Billingslea E, Wasylink S, Panza KE, Ercan-Sencicek AG, Krusong K, Leventhal BL, Ohtsu H, Bloch MH, Hughes ZA, Krystal JH, Mayes L, de Araujo I, Ding YS, State MW, Pittenger C. Histidine Decarboxylase Deficiency Causes Tourette Syndrome: Parallel Findings in Humans and Mice. Neuron 2014, 81: 77-90. PMID: 24411733, PMCID: PMC3894588, DOI: 10.1016/j.neuron.2013.10.052.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmphetamineAnimalsBrainChildDopamine AgonistsDopamine AntagonistsExploratory BehaviorFemaleHistidine DecarboxylaseHumansMaleMaze LearningMiceMice, KnockoutMiddle AgedMutationOxazinesRacloprideRadionuclide ImagingStereotyped BehaviorTime FactorsTourette SyndromeTryptophanYoung AdultConceptsTourette syndromeHA infusionKnockout miceD2/D3 receptor bindingDecarboxylase deficiencyDopamine D2 antagonist haloperidolCortico-basal ganglia circuitsStriatal DA levelsHDC knockout miceD3 receptor bindingImmediate early gene FosD2 antagonist haloperidolRare genetic causeBiosynthesis of histamineStriatal DARare causeBasal gangliaDA levelsAntagonist haloperidolGanglia circuitsPrepulse inhibitionMiceReceptor bindingGenetic causeHistidine decarboxylase
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
2011
High levels of histidine decarboxylase in the striatum of mice and rats
Krusong K, Ercan-Sencicek AG, Xu M, Ohtsu H, Anderson GM, State MW, Pittenger C. High levels of histidine decarboxylase in the striatum of mice and rats. Neuroscience Letters 2011, 495: 110-114. PMID: 21440039, PMCID: PMC3081964, DOI: 10.1016/j.neulet.2011.03.050.Peer-Reviewed Original ResearchConceptsPosterior hypothalamusBasal gangliaHistamine receptorsHistidine decarboxylaseHDC knockout miceStriatum of miceCentral nervous systemHDC proteinTuberomamillary nucleusFunctional innervationHistamine metabolismAxonal projectionsMouse striatumHigh levelsKnockout miceForebrain structuresHistamine levelsNervous systemStriatumNeurotransmitter histamineWestern blotHypothalamusRatsMiceSimilar high levels