ArticleScience translational medicine2014
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
Article in Science translational medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers.
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Who cites it
110 citing papers in PubMed, 196 citations in OpenAlex.
- Safety, pharmacokinetics and pharmacodynamics of TAK-418, a novel inhibitor of the epigenetic modulator lysine-specific demethylase 1A.British journal of clinical pharmacology · 2021Trial
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- Development of a Cognitive Assessment Battery for Adolescents and Adults with Kabuki Syndrome Type 1.Research square · 2026Article
- Ketogenic Diet as an Epigenetic Therapy in SETD1B-Related Epilepsy.Annals of clinical and translational neurology · 2026Article
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- Acetyl-carnitine improves hyperactivity and learning deficits inLife science alliance · 2026Article
- Review
- Primary cilia as a molecular convergence hub linking neurodevelopment and autism spectrum disorder.Frontiers in cellular neuroscience · 2026Review
- Inhibition of histone lysine demethylase restores learning and memory in aged mice.bioRxiv : the preprint server for biology · 2025Article
- Evaluation of [EJNMMI research · 2025Article
- Changing minds epigenetically: Germline genes in neurons disrupt animal behavior.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Polycomb-associated and Trithorax-associated developmental conditions-phenotypic convergence and heterogeneity.European journal of human genetics : EJHG · 2025Article
- In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome.JCI insight · 2025Article
- Ectopic transcription due to inherited histone methylation may interfere with the ongoing function of differentiated neurons.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.PLoS genetics · 2025Article
- Deficiency of KMT2D causes autistic-like behavior in mice and zebrafish.Communications biology · 2025Article
- Exome sequencing uncovers promising candidate genes for foetal structural malformations.The Indian journal of medical research · 2025Article
- Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations.Acta neuropsychiatrica · 2025Article
- Histone methyltransferase KMT2A: Developmental regulation to oncogenic transformation.The Journal of biological chemistry · 2024Review
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
50 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Kabuki syndrome is caused by haploinsufficiency for either of two genes that promote the opening of chromatin. If an imbalance between open and closed chromatin is central to the pathogenesis of Kabuki syndrome, agents that promote chromatin opening might have therapeutic potential. We have characterized a mouse model of Kabuki syndrome with a heterozygous deletion in the gene encoding the lysine-specific methyltransferase 2D (Kmt2d), leading to impairment of methyltransferase function. In vitro reporter alleles demonstrated a reduction in histone 4 acetylation and histone 3 lysine 4 trimethylation (H3K4me3) activity in mouse embryonic fibroblasts from Kmt2d(+/βGeo) mice. These activities were normalized in response to AR-42, a histone deacetylase inhibitor. In vivo, deficiency of H3K4me3 in the dentate gyrus granule cell layer of Kmt2d(+/βGeo) mice correlated with reduced neurogenesis and hippocampal memory defects. These abnormalities improved upon postnatal treatment with AR-42. Our work suggests that a reversible deficiency in postnatal neurogenesis underlies intellectual disability in Kabuki syndrome.
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Registered trials
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.