2020
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling
Liu C, Li D, Yang H, Li H, Xu Q, Zhou B, Hu C, Li C, Wang Y, Qiao Z, Jiang YH, Xu X. Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. Progress In Neurobiology 2020, 200: 101985. PMID: 33388374, PMCID: PMC8572121, DOI: 10.1016/j.pneurobio.2020.101985.Peer-Reviewed Original ResearchConceptsTract-based spatial statisticsVoxel-based morphometryUnderlying neuropathological mechanismsNeuropathological mechanismsDeficient childrenBrain structuresMiddle cerebral peduncleAutism spectrum disorderAbnormal neural circuitsPosterior thalamic radiationGray matter volumeFunctional connectivity studiesSuperior longitudinal fasciculusStudy of subjectsCerebral peduncleInternal capsuleRisk factorsDental abnormalitiesCorpus callosumCommissural fibersHematological problemsCorona radiataDorsal striatumNeurobehavioral evaluationAnteverted nares
2018
CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms
Tu Z, Zhao H, Li B, Yan S, Wang L, Tang Y, Li Z, Bai D, Li C, Lin Y, Li Y, Liu J, Xu H, Guo X, Jiang YH, Zhang YQ, Li XJ. CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms. Human Molecular Genetics 2018, 28: 561-571. PMID: 30329048, PMCID: PMC6489410, DOI: 10.1093/hmg/ddy367.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderCynomolgus monkey modelAutism-like symptomsPathogenesis of ASDPostsynaptic scaffold proteinsNon-human primatesFluoxetine treatmentBrain network activityMonkey modelMouse modelBehavioral abnormalitiesCausative roleExperimental therapeuticsSHANK3 mutationsBrain structuresSHANK3 geneTranslational researchMonogenic mutationsBrain activitySpecies-dependent differencesPositron emissionNetwork activityCRISPR/Cas9-mediated disruptionMonkeysSpectrum disorder