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 …
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 …
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) …
insertions or small deletions in the DNA of living cells. A prime editing guide RNA (pegRNA) …
MeCP2 links heterochromatin condensates and neurodevelopmental disease
Abstract Methyl CpG binding protein 2 (MeCP2) is a key component of constitutive
heterochromatin, which is crucial for chromosome maintenance and transcriptional …
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 …
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 …
causing mutations in afflicted individuals. Here we describe a complementary approach that …
Clinical and biological progress over 50 years in Rett syndrome
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) …
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 …
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 …
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 …
affects females. Mutations in the MECP2 gene have been attributed as the major genetic …