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 …

Engineered pegRNAs improve prime editing efficiency

JW Nelson, PB Randolph, SP Shen, KA Everette… - Nature …, 2022 - nature.com
Prime editing enables the installation of virtually any combination of point mutations, small
insertions or small deletions in the DNA of living cells. A prime editing guide RNA (pegRNA) …

MeCP2 links heterochromatin condensates and neurodevelopmental disease

CH Li, EL Coffey, A Dall'Agnese, NM Hannett, X Tang… - Nature, 2020 - nature.com
Abstract Methyl CpG binding protein 2 (MeCP2) is a key component of constitutive
heterochromatin, which is crucial for chromosome maintenance and transcriptional …

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

MJ Lyst, R Ekiert, DH Ebert, C Merusi, J Nowak… - Nature …, 2013 - nature.com
Rett syndrome (RTT) is a severe neurological disorder that is caused by mutations in the
MECP2 gene. Many missense mutations causing RTT are clustered in the DNA-binding …

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

R Chen, L Shi, J Hakenberg, B Naughton, P Sklar… - Nature …, 2016 - nature.com
Genetic studies of human disease have traditionally focused on the detection of disease-
causing mutations in afflicted individuals. Here we describe a complementary approach that …

Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

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 …

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 …

RettBASE: Rett syndrome database update

R Krishnaraj, G Ho, J Christodoulou - Human mutation, 2017 - Wiley Online Library
Rett syndrome (RTT) is an X‐linked progressive neurodevelopmental disorder that primarily
affects females. Mutations in the MECP2 gene have been attributed as the major genetic …