ArticleScientific reports2016
Euchromatin histone methyltransferase 1 regulates cortical neuronal network development.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
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- Longitudinal imaging in Kleefstra syndrome-Brief report and literature review.Annals of the Child Neurology Society · 2023Article
- Defensive and offensive behaviours in a Kleefstra syndrome mouse model.Animal cognition · 2023Article
- Human-Derived Cortical Neurospheroids Coupled to Passive, High-Density and 3D MEAs: A Valid Platform for Functional Tests.Bioengineering (Basel, Switzerland) · 2023Article
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- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas.Brain structure & function · 2020Article
- Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.Frontiers in cell and developmental biology · 2020Article
- Convergence of spectrums: neuronal gene network states in autism spectrum disorder.Current opinion in neurobiology · 2019Review
- Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.Nature communications · 2019Article
- TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.Scientific reports · 2019Article
- Intellectual disability and autism spectrum disorders 'on the fly': insights fromDisease models & mechanisms · 2019Review
- Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.Nucleic acids research · 2018Article
- Identification and Characterizations of Novel, Selective Histone Methyltransferase SET7 Inhibitors by Scaffold Hopping- and 2D-Molecular Fingerprint-Based Similarity Search.Molecules (Basel, Switzerland) · 2018Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterozygous mutations or deletions in the human Euchromatin histone methyltransferase 1 (EHMT1) gene cause Kleefstra syndrome, a neurodevelopmental disorder that is characterized by autistic-like features and severe intellectual disability (ID). Neurodevelopmental disorders including ID and autism may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks. Here we used micro-electrode arrays and whole-cell patch-clamp recordings to investigate the impact of EHMT1 deficiency at the network and single cell level. We show that EHMT1 deficiency impaired neural network activity during the transition from uncorrelated background action potential firing to synchronized network bursting. Spontaneous bursting and excitatory synaptic currents were transiently reduced, whereas miniature excitatory postsynaptic currents were not affected. Finally, we show that loss of function of EHMT1 ultimately resulted in less regular network bursting patterns later in development. These data suggest that the developmental impairments observed in EHMT1-deficient networks may result in a temporal misalignment between activity-dependent developmental processes thereby contributing to the pathophysiology of Kleefstra syndrome.
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