Rett syndrome: a complex disorder with simple roots

MJ Lyst, A Bird - Nature Reviews Genetics, 2015 - nature.com
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked
gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the …

Lessons learned from studying syndromic autism spectrum disorders

Y Sztainberg, HY Zoghbi - Nature neuroscience, 2016 - nature.com
Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

HT Chao, H Chen, RC Samaco, M Xue, M Chahrour… - Nature, 2010 - nature.com
Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-
CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental …

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 …

Sensory processing in autism spectrum disorders and Fragile X syndrome—From the clinic to animal models

D Sinclair, B Oranje, KA Razak, SJ Siegel… - … & Biobehavioral Reviews, 2017 - Elsevier
Brains are constantly flooded with sensory information that needs to be filtered at the pre-
attentional level and integrated into endogenous activity in order to allow for detection of …

MECP2 disorders: from the clinic to mice and back

LM Lombardi, SA Baker… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …

Zebrafish as an animal model for drug discovery in Parkinson's disease and other movement disorders: a systematic review

RL Vaz, TF Outeiro, JJ Ferreira - Frontiers in neurology, 2018 - frontiersin.org
Movement disorders can be primarily divided into hypokinetic and hyperkinetic. Most of the
hypokinetic syndromes are associated with the neurodegenerative disorder Parkinson's …

Chronic pain: emerging evidence for the involvement of epigenetics

F Denk, SB McMahon - Neuron, 2012 - cell.com
Epigenetic processes, such as histone modifications and DNA methylation, have been
associated with many neural functions including synaptic plasticity, learning, and memory …

The MECP2 duplication syndrome

MB Ramocki, YJ Tavyev… - American journal of …, 2010 - Wiley Online Library
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features
of the MECP2 duplication syndrome, including considerations for the care of patients with …