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 …

Regulation of histone H3K4 methylation in brain development and disease

E Shen, H Shulha, Z Weng… - … Transactions of the …, 2014 - royalsocietypublishing.org
The growing list of mutations implicated in monogenic disorders of the developing brain
includes at least seven genes (ARX, CUL4B, KDM5A, KDM5C, KMT2A, KMT2C, KMT2D) …

Histone lysine methylases and demethylases in the landscape of human developmental disorders

V Faundes, WG Newman, L Bernardini… - The American Journal of …, 2018 - cell.com
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

CN Vallianatos, B Raines, RS Porter… - Communications …, 2020 - nature.com
Histone H3 lysine 4 methylation (H3K4me) is extensively regulated by numerous writer and
eraser enzymes in mammals. Nine H3K4me enzymes are associated with …

A mouse model of X-linked intellectual disability associated with impaired removal of histone methylation

S Iwase, E Brookes, S Agarwal, AI Badeaux, H Ito… - Cell reports, 2016 - cell.com
Mutations in a number of chromatin modifiers are associated with human neurological
disorders. KDM5C, a histone H3 lysine 4 di-and tri-methyl (H3K4me2/3)-specific …

Histone H3 lysine K4 methylation and its role in learning and memory

BE Collins, CB Greer, BC Coleman, JD Sweatt - Epigenetics & chromatin, 2019 - Springer
Epigenetic modifications such as histone methylation permit change in chromatin structure
without accompanying change in the underlying genomic sequence. A number of studies in …

Epigenetic regulation in human brain—focus on histone lysine methylation

S Akbarian, HS Huang - Biological psychiatry, 2009 - Elsevier
Alterations in RNA levels are frequently reported in brain of subjects diagnosed with autism,
schizophrenia, depression, and other psychiatric diseases, but it remains unclear whether …

Altered gene-regulatory function of KDM5C by a novel mutation associated with autism and intellectual disability

CN Vallianatos, C Farrehi, MJ Friez… - Frontiers in molecular …, 2018 - frontiersin.org
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides
with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C …

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

ES Stolerman, E Francisco, JL Stallworth… - American journal of …, 2019 - Wiley Online Library
Lysine‐specific demethylase 6B (KDM6B) demethylates trimethylated lysine‐27 on histone
H3. The methylation and demethylation of histone proteins affects gene expression during …

SETD1A mediated H3K4 methylation and its role in neurodevelopmental and neuropsychiatric disorders

S Wang, A Bleeck, N Nadif Kasri, T Kleefstra… - Frontiers in Molecular …, 2021 - frontiersin.org
Posttranslational modification of histones and related gene regulation are shown to be
affected in an increasing number of neurological disorders. SETD1A is a chromatin …