Impact of KDM6B mosaic brain knockout on synaptic function and behavior

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dc.contributor.authorBrauer, Bastian
dc.contributor.authorAncatén-González, Carlos
dc.contributor.authorAhumada-Marchant, Constanza
dc.contributor.authorMeza, Rodrigo C.
dc.contributor.authorMerino-Veliz, Nicolas
dc.contributor.authorNardocci, Gino
dc.contributor.authorVarela-Nallar, Lorena
dc.contributor.authorArriagada, Gloria
dc.contributor.authorChávez, Andrés E.
dc.contributor.authorBustos, Fernando J.
dc.date.accessioned2024-11-11T15:26:25Z
dc.date.available2024-11-11T15:26:25Z
dc.date.issued2024-11
dc.descriptionIndexación: Scopus.
dc.description.abstractAutism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by impairments in social communication, repetitive behaviors, and restricted interests. Epigenetic modifications serve as critical regulators of gene expression playing a crucial role in controlling brain function and behavior. Lysine (K)-specific demethylase 6B (KDM6B), a stress-inducible H3K27me3 demethylase, has emerged as one of the highest ASD risk genes, but the precise effects of KDM6B mutations on neuronal activity and behavioral function remain elusive. Here we show the impact of KDM6B mosaic brain knockout on the manifestation of different autistic-like phenotypes including repetitive behaviors, social interaction, and significant cognitive deficits. Moreover, KDM6B mosaic knockout display abnormalities in hippocampal excitatory synaptic transmission decreasing NMDA receptor mediated synaptic transmission and plasticity. Understanding the intricate interplay between epigenetic modifications and neuronal function may provide novel insights into the pathophysiology of ASD and potentially inform the development of targeted therapeutic interventions. © The Author(s) 2024.
dc.description.urihttps://www-nature-com.recursosbiblioteca.unab.cl/articles/s41598-024-70728-5
dc.identifier.doi10.1038/s41598-024-70728-5
dc.identifier.issn20452322
dc.identifier.urihttps://repositorio.unab.cl/handle/ria/61854
dc.language.isoen
dc.publisherScientific Reports, Volume 14, Issue 1 December 2024, Article number 20416
dc.rights.licenseAttribution-NonCommercial-NoDerivatives 4.0 International CC BY-NC-ND 4.0 Deed
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectAnimals
dc.subjectAutism Spectrum Disorder
dc.subjectBehavior, Animal
dc.subjectBrain
dc.subjectEpigenesis, Genetic
dc.subjectHippocampus
dc.subjectJumonji Domain-Containing Histone Demethylases
dc.subjectMale; Mice
dc.subjectMice, Knockout
dc.subjectNeuronal Plasticity
dc.subjectSynapses
dc.subjectSynaptic Transmission
dc.titleImpact of KDM6B mosaic brain knockout on synaptic function and behavior
dc.typeArtículo
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