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 …
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 …
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 …
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 …
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 …
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 …
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
Epigenetic mechanisms, such as DNA methylation, regulate transcriptional programs to
afford the genome flexibility in responding to developmental and environmental cues in …
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
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 …
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 …
regulatory elements based on chromatin features and transcriptional regulator binding and …
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
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 …
the gene coding for methyl CpG-binding protein 2 (MECP2). Mice deficient in MeCP2 have a …