2022
Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids
Brady M, Mariani J, Koca Y, Szekely A, King R, Bloch M, Landeros-Weisenberger A, Leckman J, Vaccarino F. Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids. Molecular Psychiatry 2022, 27: 5007-5019. PMID: 36447010, PMCID: PMC9949887, DOI: 10.1038/s41380-022-01880-5.Peer-Reviewed Original ResearchConceptsTourette syndromeInterneuron deficitsGABAergic interneuronsHealthy controlsNeurodevelopmental underpinningsNeuropathological deficitsBG circuitryNeuropsychiatric disordersDecreased differentiationT patientsInterneuronsAltered expressionPotential mechanismsCilia disruptionSonic hedgehogOrganoidsStem cellsTS individualsPluripotent stem cellsGli transcription factorsDeficitsOrganoid differentiationEarly stagesCholinergicPatients
2017
The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family
Sun N, Nasello C, Deng L, Wang N, Zhang Y, Xu Z, Song Z, Kwan K, King R, Pang Z, Xing J, Heiman G, Tischfield J. The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. Molecular Psychiatry 2017, 23: 1487-1495. PMID: 28894297, PMCID: PMC5847395, DOI: 10.1038/mp.2017.179.Peer-Reviewed Original ResearchConceptsNonsense-mediated mRNA decayNonsense mutationMultiplex familiesPluripotent stem cellsTD phenotypeDeleterious sequence variantsGenetic architectureMRNA decayHouse bioinformatics pipelineDNA sequencesBioinformatics pipelineTD familyWhole-exome sequencingSequence variantsBiochemical assaysMolecular differencesWhole exomeIsoform levelsStem cellsProtein levelsTD etiologyExome sequencingPNKDHeterozygous nonsense mutationGenes