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) …

DNA methylation and methyl-CpG binding proteins: developmental requirements and function

O Bogdanović, GJC Veenstra - Chromosoma, 2009 - Springer
DNA methylation is a major epigenetic modification in the genomes of higher eukaryotes. In
vertebrates, DNA methylation occurs predominantly on the CpG dinucleotide, and …

Early-life gene expression in neurons modulates lasting epigenetic states

H Stroud, SC Su, S Hrvatin, AW Greben, W Renthal… - Cell, 2017 - cell.com
In mammals, the environment plays a critical role in promoting the final steps in neuronal
development during the early postnatal period. While epigenetic factors are thought to …

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

MD Shahbazian, JI Young, LA Yuva-Paylor… - Neuron, 2002 - cell.com
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), a
neurodevelopmental disorder characterized by the loss of language and motor skills during …

Postnatal neurodevelopmental disorders: meeting at the synapse?

HY Zoghbi - Science, 2003 - science.org
We often think of neurodevelopmental disorders as beginning before birth, and many
certainly do. A handful, however, strike many months after birth, following a period of …

Epigenetic regulation of gene expression in physiological and pathological brain processes

J Gräff, D Kim, MM Dobbin, LH Tsai - Physiological reviews, 2011 - journals.physiology.org
Over the past decade, it has become increasingly obvious that epigenetic mechanisms are
an integral part of a multitude of brain functions that range from the development of the …

Genetic alterations of DNA methylation machinery in human diseases

T Hamidi, AK Singh, T Chen - Epigenomics, 2015 - Taylor & Francis
DNA methylation plays a critical role in the regulation of chromatin structure and gene
expression and is involved in a variety of biological processes. The levels and patterns of …

Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome

VS Dani, Q Chang, A Maffei… - Proceedings of the …, 2005 - National Acad Sciences
Rett Syndrome (RTT) is a devastating neurological disorder that is caused by mutations in
the MECP2 gene. Mecp2-mutant mice have been used as a model system to study the …

Conditional control of gene expression in the mouse

M Lewandoski - Nature Reviews Genetics, 2001 - nature.com
One of the most powerful tools that the molecular biology revolution has given us is the
ability to turn genes on and off at our discretion. In the mouse, this has been accomplished …

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 …