Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies

AJ Sandweiss, VL Brandt, HY Zoghbi - The Lancet Neurology, 2020 - thelancet.com
The X-linked gene encoding MECP2 is involved in two severe and complex
neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett …

Rett syndrome: insights into genetic, molecular and circuit mechanisms

JPK Ip, N Mellios, M Sur - Nature Reviews Neuroscience, 2018 - nature.com
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene
encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …

Joint single-cell profiling resolves 5mC and 5hmC and reveals their distinct gene regulatory effects

EB Fabyanic, P Hu, Q Qiu, KN Berríos… - Nature …, 2024 - nature.com
Abstract Oxidative modification of 5-methylcytosine (5mC) by ten-eleven translocation (TET)
DNA dioxygenases generates 5-hydroxymethylcytosine (5hmC), the most abundant form of …

The translatome of neuronal cell bodies, dendrites, and axons

C Glock, A Biever, G Tushev… - Proceedings of the …, 2021 - National Acad Sciences
To form synaptic connections and store information, neurons continuously remodel their
proteomes. The impressive length of dendrites and axons imposes logistical challenges to …

Nondestructive, base-resolution sequencing of 5-hydroxymethylcytosine using a DNA deaminase

EK Schutsky, JE DeNizio, P Hu, MY Liu, CS Nabel… - Nature …, 2018 - nature.com
Here we present APOBEC-coupled epigenetic sequencing (ACE-seq), a bisulfite-free
method for localizing 5-hydroxymethylcytosine (5hmC) at single-base resolution with low …

Rett syndrome: a neurological disorder with metabolic components

SM Kyle, N Vashi, MJ Justice - Open biology, 2018 - royalsocietypublishing.org
Rett syndrome (RTT) is a neurological disorder caused by mutations in the X-linked gene
methyl-CpG-binding protein 2 (MECP2), a ubiquitously expressed transcriptional regulator …

[HTML][HTML] The molecular basis of MeCP2 function in the brain

R Tillotson, A Bird - Journal of molecular biology, 2020 - Elsevier
MeCP2 is a reader of the DNA methylome that occupies a large proportion of the genome
due to its high abundance and the frequency of its target sites. It has been the subject of …

Dissecting cell-type composition and activity-dependent transcriptional state in mammalian brains by massively parallel single-nucleus RNA-seq

P Hu, E Fabyanic, DY Kwon, S Tang, Z Zhou, H Wu - Molecular cell, 2017 - cell.com
Massively parallel single-cell RNA sequencing can precisely resolve cellular diversity in a
high-throughput manner at low cost, but unbiased isolation of intact single cells from …

Interaction of methyl-CpG-binding protein 2 (MeCP2) with distinct enhancers in the mouse cortex

GP Mishra, EX Sun, T Chin, M Eckhardt… - Nature …, 2024 - nature.com
Mutations in methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome. MeCP2 is
thought to regulate gene transcription by binding to methylated DNA broadly across the …

Epigenetic etiology of intellectual disability

S Iwase, NG Bérubé, Z Zhou, NN Kasri… - Journal of …, 2017 - Soc Neuroscience
Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with
impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other …