| http://purl.uniprot.org/citations/37428632 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37428632 | http://www.w3.org/2000/01/rdf-schema#comment | "Rare genetic variants in ANK2, which encodes ankyrin-B, are associated with neurodevelopmental disorders (NDDs); however, their pathogenesis is poorly understood. We find that mice with prenatal deletion in cortical excitatory neurons and oligodendrocytes (Ank2-/-:Emx1-Cre), but not with adolescent deletion in forebrain excitatory neurons (Ank2-/-:CaMKIIα-Cre), display severe spontaneous seizures, increased mortality, hyperactivity, and social deficits. Calcium imaging of cortical slices from Ank2-/-:Emx1-Cre mice shows increased neuronal calcium event amplitude and frequency, along with network hyperexcitability and hypersynchrony. Quantitative proteomic analysis of cortical synaptic membranes reveals upregulation of dendritic spine plasticity-regulatory proteins and downregulation of intermediate filaments. Characterization of the ankyrin-B interactome identifies interactors associated with autism and epilepsy risk factors and synaptic proteins. The AMPA receptor antagonist, perampanel, restores cortical neuronal activity and partially rescues survival in Ank2-/-:Emx1-Cre mice. Our findings suggest that synaptic proteome alterations resulting from Ank2 deletion impair neuronal activity and synchrony, leading to NDDs-related behavioral impairments."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.celrep.2023.112784"xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Yoon S."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Savas J.N."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Penzes P."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Mohler P.J."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Santos M.D."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Pratt C.P."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Forrest M.P."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/author | "Khalatyan N."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/name | "Cell Rep"xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/pages | "112784"xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/title | "Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome."xsd:string |
| http://purl.uniprot.org/citations/37428632 | http://purl.uniprot.org/core/volume | "42"xsd:string |
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