The neurobiology of Rett syndrome

S Akbarian - The Neuroscientist, 2003 - journals.sagepub.com
Rett syndrome is a neuropsychiatric disorder with onset in early childhood. Loss-of-function
mutations of the X-linked gene encoding methyl-CpG binding protein 2 (MECP2) are …

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2

TI Sheikh, J Ausió, H Faghfoury, J Silver, JB Lane… - Scientific Reports, 2016 - nature.com
Mutations in the MECP2 gene cause Rett syndrome (RTT). MeCP2 binds to chromocentric
DNA through its methyl CpG-binding domain (MBD) to regulate gene expression. In …

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function

J Tao, K Hu, Q Chang, H Wu… - Proceedings of the …, 2009 - National Acad Sciences
Mutations of MECP2 (Methyl-CpG Binding Protein 2) cause Rett syndrome. As a chromatin-
associated multifunctional protein, how MeCP2 integrates external signals and regulates …

DNA methylation in the gene body influences MeCP2-mediated gene repression

B Kinde, DY Wu, ME Greenberg… - Proceedings of the …, 2016 - National Acad Sciences
Rett syndrome is a severe neurodevelopmental disorder caused by mutations in the methyl-
CpG binding protein gene (MECP2). MeCP2 is a methyl-cytosine binding protein that is …

Insight into Rett syndrome: MeCP2 levels display tissue-and cell-specific differences and correlate with neuronal maturation

MD Shahbazian, B Antalffy… - Human molecular …, 2002 - academic.oup.com
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-
CpG-binding protein 2 (MECP2) gene. Previous data have shown that MECP2 RNA is …

MECP2, a multi-talented modulator of chromatin architecture

F Della Ragione, M Vacca, S Fioriniello… - Briefings in …, 2016 - academic.oup.com
It has been a long trip from 1992, the year of the discovery of MECP2, to the present day.
What is surprising is that some of the pivotal roles of MeCP2 were already postulated at that …

DNA methylation and Rett syndrome

S Kriaucionis, A Bird - Human molecular genetics, 2003 - academic.oup.com
Methylation of cytosine in human DNA has been studied for over 60 years, but has only
recently been confirmed as an important player in human disease. Rett syndrome is a …

Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage

BE Collins, JL Neul - Neuropsychiatric disease and treatment, 2022 - Taylor & Francis
Rett syndrome (RTT) is a neurodevelopmental disorder caused predominantly by loss-of-
function mutations in the gene Methyl-CpG-binding protein 2 (MECP2), which encodes the …

MeCP2 as an activator of gene expression

PM Horvath, LM Monteggia - Trends in neurosciences, 2018 - cell.com
Rett syndrome is a neurodevelopmental disorder that primarily affects females and is
caused by mutations in the methyl-CpG-binding-protein 2 (MECP2) gene. Initially, MeCP2 …

Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions

RP Ghosh, RA Horowitz-Scherer, T Nikitina… - Journal of Biological …, 2008 - ASBMB
Most cases of Rett syndrome (RTT) are caused by mutations in the methylated DNA-binding
protein, MeCP2. Here, we have shown that frequent RTT-causing missense mutations …