{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Amar M"],"funding":["NIMH NIH HHS","NINDS NIH HHS","NCI NIH HHS"],"pagination":["3586-3613"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8443683"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(7)"],"pubmed_abstract":["E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploinsufficient Cul3 mouse model using CRISPR/Cas9 genome engineering. Cul3 mutant mice exhibited social and cognitive deficits and hyperactive behavior. Brain MRI found decreased volume of cortical regions and changes in many other brain regions of Cul3 mutant mice starting from early postnatal development. Spatiotemporal transcriptomic and proteomic profiling of embryonic, early postnatal and adult brain implicated neurogenesis and cytoskeletal defects as key drivers of Cul3 functional impact. Specifically, dendritic growth, filamentous actin puncta, and spontaneous network activity "],"journal":["Molecular psychiatry"],"pubmed_title":["Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling."],"pmcid":["PMC8443683"],"funding_grant_id":["P30 NS047101","R01 MH105524","R01 MH108528","R01 MH113715","U01 MH119746","P30 CA023100","R01 MH100175","R21 MH104766","R01 MH109885"],"pubmed_authors":["Herrera VM","Moran-Losada P","Ramanathan D","Trujillo CA","Chen J","Urresti J","Iakoucheva LM","Zhang P","Pramod AB","Gutierrez J","Amar M","Diedrich J","Lerch JP","Yates JR","Ellegood J","Muotri AR","Chau K","Yu NK","Qiu LR","Sebat J"],"additional_accession":[]},"is_claimable":false,"name":"Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling.","description":"E3-ubiquitin ligase Cullin3 (Cul3) is a high confidence risk gene for autism spectrum disorder (ASD) and developmental delay (DD). To investigate how Cul3 mutations impact brain development, we generated a haploinsufficient Cul3 mouse model using CRISPR/Cas9 genome engineering. Cul3 mutant mice exhibited social and cognitive deficits and hyperactive behavior. Brain MRI found decreased volume of cortical regions and changes in many other brain regions of Cul3 mutant mice starting from early postnatal development. Spatiotemporal transcriptomic and proteomic profiling of embryonic, early postnatal and adult brain implicated neurogenesis and cytoskeletal defects as key drivers of Cul3 functional impact. Specifically, dendritic growth, filamentous actin puncta, and spontaneous network activity ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul","modification":"2026-07-16T13:33:36.318Z","creation":"2025-04-06T22:51:58.429Z"},"accession":"S-EPMC8443683","cross_references":{"pubmed":["33727673"],"doi":["10.1038/s41380-021-01052-x"]}}