A loss-of-function variant in SUV39H2 identified in autism-spectrum disorder causes altered H3K9 trimethylation and dysregulation of protocadherin β-cluster genes�…

S Balan, Y Iwayama, T Ohnishi, M Fukuda…�- Molecular�…, 2021 - nature.com
Recent evidence has documented the potential roles of histone-modifying enzymes in
autism-spectrum disorder (ASD). Aberrant histone H3 lysine 9 (H3K9) dimethylation�…

[HTML][HTML] Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects

S Balan, Y Iwayama, M Maekawa, T Toyota, T Ohnishi…�- Molecular Autism, 2014 - Springer
Background Histone H3 methylation at lysine 9 (H3K9) is a conserved epigenetic signal,
mediating heterochromatin formation by trimethylation, and transcriptional silencing by�…

Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders

CN Vallianatos, S Iwase�- Epigenomics, 2015 - Taylor & Francis
Methylation of histone H3 lysine 4 (H3K4me) is an intricately regulated posttranslational
modification, which is broadly associated with enhancers and promoters of actively�…

Role of H3K4 demethylases in complex neurodevelopmental diseases

C Wynder, L Stalker, ML Doughty�- Epigenomics, 2010 - Taylor & Francis
Significant neurological disorders can result from subtle perturbations of gene regulation
that are often linked to epigenetic regulation. Proteins that regulate the methylation of lysine�…

CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing

E Kerschbamer, M Arnoldi, T Tripathi…�- Nucleic Acids�…, 2022 - academic.oup.com
Disruptive mutations in the chromodomain helicase DNA-binding protein 8 gene (CHD8)
have been recurrently associated with autism spectrum disorders (ASDs). Here we�…

Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice

ZJ Wang, P Zhong, K Ma, JS Seo, F Yang, Z Hu…�- Molecular�…, 2020 - nature.com
Many of the genes disrupted in autism are identified as histone-modifying enzymes and
chromatin remodelers, most prominently those that mediate histone methylation�…

Targeting histone demethylase LSD1 for treatment of deficits in autism mouse models

M Rapanelli, JB Williams, K Ma, F Yang, P Zhong…�- Molecular�…, 2022 - nature.com
Large-scale genetic studies have revealed that the most prominent genes disrupted in
autism are chromatin regulators mediating histone methylation/demethylation, suggesting�…

[HTML][HTML] Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor

T Nakamura, T Yoshihara, C Tanegashima…�- Molecular�…, 2024 - nature.com
Recent studies have consistently demonstrated that the regulation of chromatin and gene
transcription plays a pivotal role in the pathogenesis of neurodevelopmental disorders�…

[HTML][HTML] Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

TS Koemans, T Kleefstra, MC Chubak, MH Stone…�- PLoS�…, 2017 - journals.plos.org
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase
1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD)�…

Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis

G Chen, L Han, S Tan, X Jia, H Wu, Y Quan…�- Journal of Genetics and�…, 2022 - Elsevier
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that cause
severe social, communication, and behavioral problems. Recent studies show that the�…