Epigenetic mechanisms in neurological disease

M Jakovcevski, S Akbarian - Nature medicine, 2012 - nature.com
The exploration of brain epigenomes, which consist of various types of DNA methylation and
covalent histone modifications, is providing new and unprecedented insights into the …

Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

Y Sztainberg, H Chen, JW Swann, S Hao, B Tang… - Nature, 2015 - nature.com
Copy number variations have been frequently associated with developmental delay,
intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of …

Astrocytes and microglia and their potential link with autism spectrum disorders

F Petrelli, L Pucci, P Bezzi - Frontiers in cellular neuroscience, 2016 - frontiersin.org
The cellular mechanism (s) underlying autism spectrum disorders (ASDs) are not fully
understood although it has been shown that various genetic and environmental factors …

Loss of MeCP2 in parvalbumin-and somatostatin-expressing neurons in mice leads to distinct Rett syndrome-like phenotypes

A Ito-Ishida, K Ure, H Chen, JW Swann, HY Zoghbi - Neuron, 2015 - cell.com
Inhibitory neurons are critical for proper brain function, and their dysfunction is implicated in
several disorders, including autism, schizophrenia, and Rett syndrome. These neurons are …

The impact of MeCP2 loss-or gain-of-function on synaptic plasticity

ES Na, ED Nelson, ET Kavalali… - …, 2013 - nature.com
Abstract Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional regulator of gene
expression that is an important epigenetic factor in the maintenance and development of the …

An RNA editing strategy rescues gene duplication in a mouse model of MECP2 duplication syndrome and nonhuman primates

D Yang, X Wu, Y Yao, M Duan, X Wang, G Li… - Nature …, 2025 - nature.com
Duplication of methyl-CpG-binding protein 2 (MECP2) gene causes MECP2 duplication
syndrome (MDS). To normalize the duplicated MECP2 in MDS, we developed a high-fidelity …

Increased binding of MeCP2 to the GAD1 and RELN promoters may be mediated by an enrichment of 5-hmC in autism spectrum disorder (ASD) cerebellum

A Zhubi, Y Chen, E Dong, EH Cook, A Guidotti… - Translational …, 2014 - nature.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
symptoms related to altered social interactions/communication and restricted and repetitive …

DNA methylation program in developing hippocampus and its alteration by alcohol

Y Chen, NC Ozturk, FC Zhou - PloS one, 2013 - journals.plos.org
During hippocampal development, the Cornus Ammonis (CA) and the dentate gyrus (DG)
undergo waves of neurogenesis and neuronal migration and maturation independently. This …

Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis

SS Bajikar, J Zhou, R O'Hara, HP Tirumala… - Neuron, 2024 - cell.com
Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene cause Rett
syndrome, a severe childhood neurological disorder. MeCP2 is a well-established …