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 …

Molecular pathways underlying projection neuron production and migration during cerebral cortical development

C Ohtaka-Maruyama, H Okado - Frontiers in neuroscience, 2015 - frontiersin.org
Glutamatergic neurons of the mammalian cerebral cortex originate from radial glia (RG)
progenitors in the ventricular zone (VZ). During corticogenesis, neuroblasts migrate toward …

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

E Eising, A Carrion-Castillo, A Vino, EA Strand… - Molecular …, 2019 - nature.com
Genetic investigations of people with impaired development of spoken language provide
windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most …

Neuronal development is promoted by weakened intrinsic antioxidant defences due to epigenetic repression of Nrf2

KFS Bell, B Al-Mubarak, MA Martel, S McKay… - Nature …, 2015 - nature.com
Forebrain neurons have weak intrinsic antioxidant defences compared with astrocytes, but
the molecular basis and purpose of this is poorly understood. We show that early in mouse …

Thirty years' history since the discovery of Pax6: from central nervous system development to neurodevelopmental disorders

S Ochi, S Manabe, T Kikkawa, N Osumi - International Journal of …, 2022 - mdpi.com
Pax6 is a sequence-specific DNA binding transcription factor that positively and negatively
regulates transcription and is expressed in multiple cell types in the developing and adult …

Role of DNA methylation and the DNA methyltransferases in learning and memory

MJ Morris, LM Monteggia - Dialogues in clinical neuroscience, 2014 - Taylor & Francis
Dynamic regulation of chromatin structure in postmitotic neurons plays an important role in
learning and memory. Methylation of cytosine nucleotides has historically been considered …

De novo damaging variants associated with congenital heart diseases contribute to the connectome

W Ji, D Ferdman, J Copel, D Scheinost, V Shabanova… - Scientific reports, 2020 - nature.com
Congenital heart disease (CHD) survivors are at risk for neurodevelopmental disability
(NDD), and recent studies identify genes associated with both disorders, suggesting that …

Genomic rewiring of SOX2 chromatin interaction network during differentiation of ESCs to postmitotic neurons

D Bunina, N Abazova, N Diaz, KM Noh, J Krijgsveld… - Cell systems, 2020 - cell.com
Cellular differentiation requires dramatic changes in chromatin organization, transcriptional
regulation, and protein production. To understand the regulatory connections between these …

Loss of Uhrf1 in neural stem cells leads to activation of retroviral elements and delayed neurodegeneration

V Ramesh, E Bayam, FM Cernilogar… - Genes & …, 2016 - genesdev.cshlp.org
In order to understand whether early epigenetic mechanisms instruct the long-term behavior
of neural stem cells (NSCs) and their progeny, we examined Uhrf1 (ubiquitin-like PHD ring …

Regulation of chromatin structure during neural development

Y Kishi, Y Gotoh - Frontiers in neuroscience, 2018 - frontiersin.org
The regulation of genome architecture is a key determinant of gene transcription patterns
and neural development. Advances in methodologies based on chromatin conformation …