MeCP2: the genetic driver of Rett syndrome epigenetics

KV Good, JB Vincent, J Ausió - Frontiers in Genetics, 2021 - frontiersin.org
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

Autism spectrum disorder: insights into convergent mechanisms from transcriptomics

M Quesnel-Vallières, RJ Weatheritt, SP Cordes… - Nature Reviews …, 2019 - nature.com
Heredity has a major role in autism spectrum disorder (ASD), yet underlying causal genetic
variants have been defined only in a fairly small subset of cases. The enormous genetic …

Deep brain stimulation of thalamic nucleus reuniens promotes neuronal and cognitive resilience in an Alzheimer's disease mouse model

S Shoob, N Buchbinder, O Shinikamin, O Gold… - Nature …, 2023 - nature.com
The mechanisms that confer cognitive resilience to Alzheimer's Disease (AD) are not fully
understood. Here, we describe a neural circuit mechanism underlying this resilience in a …

Environmental enrichment preserves a young DNA methylation landscape in the aged mouse hippocampus

S Zocher, RW Overall, M Lesche, A Dahl… - Nature …, 2021 - nature.com
The decline of brain function during aging is associated with epigenetic changes, including
DNA methylation. Lifestyle interventions can improve brain function during aging, but their …

[HTML][HTML] Therapeutic modulation of RNA splicing in malignant and non-malignant disease

E El Marabti, O Abdel-Wahab - Trends in molecular medicine, 2021 - cell.com
RNA splicing is the enzymatic process by which non-protein coding sequences are removed
from RNA to produce mature protein-coding mRNA. Splicing is thereby a major mediator of …

The molecular functions of MeCP2 in Rett syndrome pathology

O Sharifi, DH Yasui - Frontiers in Genetics, 2021 - frontiersin.org
MeCP2 protein, encoded by the MECP2 gene, binds to DNA and affects transcription.
Outside of this activity the true range of MeCP2 function is still not entirely clear. As MECP2 …

Metabolomic fingerprint of Mecp2-deficient mouse cortex: Evidence for a pronounced multi-facetted metabolic component in Rett syndrome

G Golubiani, V Lagani, R Solomonia, M Müller - Cells, 2021 - mdpi.com
Using unsupervised metabolomics, we defined the complex metabolic conditions in the
cortex of a mouse model of Rett syndrome (RTT). RTT, which represents a cause of mental …

Transcriptomic and epigenomic landscape in rett syndrome

D Marano, S Fioriniello, M D'Esposito, F Della Ragione - Biomolecules, 2021 - mdpi.com
Rett syndrome (RTT) is an extremely invalidating, cureless, developmental disorder, and it is
considered one of the leading causes of intellectual disability in female individuals. The vast …

Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome

E Siqueira, A Obiols-Guardia, OC Jorge-Torres… - … Therapy-Nucleic Acids, 2022 - cell.com
Noncoding RNAs play regulatory roles in physiopathology, but their involvement in
neurodevelopmental diseases is poorly understood. Rett syndrome is a severe, progressive …

Convergence of spectrums: neuronal gene network states in autism spectrum disorder

JM Sullivan, S De Rubeis, A Schaefer - Current opinion in neurobiology, 2019 - Elsevier
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized
by social deficits and restrictive and/or repetitive behaviors. The breadth of ASD symptoms is …