{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cho CH"],"funding":["NIMH NIH HHS","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["8499"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10739966"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(1)"],"pubmed_abstract":["Heterozygous deletions in the ANKS1B gene cause ANKS1B neurodevelopmental syndrome (ANDS), a rare genetic disease characterized by autism spectrum disorder (ASD), attention deficit/hyperactivity disorder, and speech and motor deficits. The ANKS1B gene encodes for AIDA-1, a protein that is enriched at neuronal synapses and regulates synaptic plasticity. Here we report an unexpected role for oligodendroglial deficits in ANDS pathophysiology. We show that Anks1b-deficient mouse models display deficits in oligodendrocyte maturation, myelination, and Rac1 function, and recapitulate white matter abnormalities observed in ANDS patients. Selective loss of Anks1b from the oligodendrocyte lineage, but not from neuronal populations, leads to deficits in social preference and sensory reactivity previo"],"journal":["Nature communications"],"pubmed_title":["ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function."],"pmcid":["PMC10739966"],"funding_grant_id":["R01 NS118820","R35 GM136226","R56 MH115201"],"pubmed_authors":["Maguire AS","Branch CA","Carbonell AU","Jordan BA","Hodgson L","Vazquez J","Diaz JR","Fleysher R","Tindi JO","Cui MH","Deyneko IV","Lipton ML","Cho CH","Molholm S","Cordova-Martinez D"],"additional_accession":[]},"is_claimable":false,"name":"ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function.","description":"Heterozygous deletions in the ANKS1B gene cause ANKS1B neurodevelopmental syndrome (ANDS), a rare genetic disease characterized by autism spectrum disorder (ASD), attention deficit/hyperactivity disorder, and speech and motor deficits. The ANKS1B gene encodes for AIDA-1, a protein that is enriched at neuronal synapses and regulates synaptic plasticity. Here we report an unexpected role for oligodendroglial deficits in ANDS pathophysiology. We show that Anks1b-deficient mouse models display deficits in oligodendrocyte maturation, myelination, and Rac1 function, and recapitulate white matter abnormalities observed in ANDS patients. Selective loss of Anks1b from the oligodendrocyte lineage, but not from neuronal populations, leads to deficits in social preference and sensory reactivity previo","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2025-04-22T11:12:20.121Z","creation":"2025-04-05T23:53:46.958Z"},"accession":"S-EPMC10739966","cross_references":{"pubmed":["38129387"],"doi":["10.1038/s41467-023-43438-1"]}}