A synaptic trek to autism

T Bourgeron - Current opinion in neurobiology, 2009 - Elsevier
Autism spectrum disorders (ASD) are diagnosed on the basis of three behavioral features
namely deficits in social communication, absence or delay in language, and stereotypy. The …

[图书][B] Preventing mental, emotional, and behavioral disorders among young people: Progress and possibilities

National Research Council - 2009 - nap.nationalacademies.org
Preventing Mental, Emotional, and Behavioral Disorders Among Young People: Progress and
Possibilities | The National Academies Press Skip to main content Navigate to Help Ordering …

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

RG Urdinguio, JV Sanchez-Mut, M Esteller - The Lancet Neurology, 2009 - thelancet.com
Epigenetic mechanisms such as DNA methylation and modifications to histone proteins
regulate high-order DNA structure and gene expression. Aberrant epigenetic mechanisms …

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

N Valassina, S Brusco, A Salamone, L Serra… - Nature …, 2022 - nature.com
Dravet syndrome is a severe epileptic encephalopathy caused primarily by
haploinsufficiency of the SCN1A gene. Repetitive seizures can lead to endurable and …

[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 …

Advances in autism

DH Geschwind - Annual review of medicine, 2009 - annualreviews.org
Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is
not a unitary entity but a clinical syndrome, with variable deficits in social behavior and …

MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

L Chen, K Chen, LA Lavery, SA Baker… - Proceedings of the …, 2015 - National Acad Sciences
Epigenetic mechanisms, such as DNA methylation, regulate transcriptional programs to
afford the genome flexibility in responding to developmental and environmental cues in …

Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons

Y Li, H Wang, J Muffat, AW Cheng, DA Orlando… - Cell stem cell, 2013 - cell.com
Rett syndrome (RTT) is caused by mutations of MECP2, a methyl CpG binding protein
thought to act as a global transcriptional repressor. Here we show, using an isogenic human …

[HTML][HTML] CTCF and cohesin: linking gene regulatory elements with their targets

M Merkenschlager, DT Odom - Cell, 2013 - cell.com
Current epigenomics approaches have facilitated the genome-wide identification of
regulatory elements based on chromatin features and transcriptional regulator binding and …

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

D Tropea, E Giacometti, NR Wilson… - Proceedings of the …, 2009 - National Acad Sciences
Rett Syndrome (RTT) is a severe form of X-linked mental retardation caused by mutations in
the gene coding for methyl CpG-binding protein 2 (MECP2). Mice deficient in MeCP2 have a …