ArticleNature communications2019
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
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Who cites it
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025Pooled it
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- From chromatin dynamics to brain disease: Polycomb-Trithorax mechanisms in neurodevelopment.Trends in neurosciences · 2026Review
- De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.Nature communications · 2026Article
- Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.Molecular psychiatry · 2026Article
- Hierarchical Afferent Connectivity Drives Population-Wide Bursting Dynamics in a Computational Model of Human-Derived Excitatory Neuronal Networks.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Nanogroove-Induced Enhancement of Neural Spike Activity in Stem Cell-Derived Networks.Micromachines · 2026Article
- Non-polio enterovirus infection and electrophysiological changes in human iPSC-derived neural networks.EBioMedicine · 2026Article
- Loss of function of the chromatin remodeling geneProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.Stem cell reports · 2026Article
- Hypersynchronous iPSC-derived SHANK2 neuronal networks are rescued by mGluR5 agonism.Stem cell reports · 2025Article
- Non-polio enteroviruses compromise the electrophysiology of a human iPSC-derived neural network.bioRxiv : the preprint server for biology · 2025Article
- High-density Multielectrode Array Recordings of Retinal Waves Using An Electrophysiology Platform.Journal of visualized experiments : JoVE · 2025Article
- Machine Learning Algorithms in EEG Analysis of Kleefstra Syndrome: Current Evidence and Future Directions.Sensors (Basel, Switzerland) · 2025Review
- Automated inference of disease mechanisms in patient-hiPSC-derived neuronal networks.Communications biology · 2025Article
- A Novel Frameshift Variant and a PartialGenes · 2025Review
- CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.Brain : a journal of neurology · 2025Article
- Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder.Frontiers in molecular neuroscience · 2025Article
- Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.BMC medical genomics · 2024Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. In mice EHMT1 deficiency leads to similar neuronal network impairments with increased NMDAR function. Finally, we rescue the KS patient-derived neuronal network phenotypes by pharmacological inhibition of NMDARs. Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.