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 …

The story of Rett syndrome: from clinic to neurobiology

M Chahrour, HY Zoghbi - Neuron, 2007 - cell.com
The postnatal neurodevelopmental disorder Rett syndrome (RTT) is caused by mutations in
the gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor …

[HTML][HTML] A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

MCN Marchetto, C Carromeu, A Acab, D Yu, GW Yeo… - Cell, 2010 - cell.com
Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which
different combinations of genetic mutations may contribute to the phenotype. Using Rett …

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 …

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 …

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice

AL Collins, JM Levenson, AP Vilaythong… - Human molecular …, 2004 - academic.oup.com
Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2), encoding a transcriptional
repressor, cause Rett syndrome and a variety of related neurodevelopmental disorders. The …

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation

LS Weaving, J Christodoulou, SL Williamson… - The American Journal of …, 2004 - cell.com
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic
cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large …

Cellular commitment in the developing cerebellum

H Marzban, MR Del Bigio, J Alizadeh… - Frontiers in cellular …, 2015 - frontiersin.org
The mammalian cerebellum is located in the posterior cranial fossa and is critical for motor
coordination and non-motor functions including cognitive and emotional processes. The …

MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

N Kishi, JD Macklis - Molecular and Cellular Neuroscience, 2004 - Elsevier
Rett syndrome is a neurodevelopmental disorder and one of the causes of mental
retardation and autistic behavior in girls, as well as in a small group of boys. It was recently …