Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

The role of MeCP2 in the brain

J Guy, H Cheval, J Selfridge… - Annual review of cell and …, 2011 - annualreviews.org
Methyl-CpG binding protein 2 (MeCP2) was first identified in 1992 as a protein that binds
specifically to methylated DNA. Mutations in the MECP2 gene were later found to be the …

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) …

Long-term potentiation at CA3–CA1 hippocampal synapses with special emphasis on aging, disease, and stress

A Kumar - Frontiers in aging neuroscience, 2011 - frontiersin.org
Synaptic plasticity in the mammalian central nervous system has been the subject of intense
investigation for the past four decades. Long-term potentiation (LTP), a major reflection of …

The impact of MeCP2 loss-or gain-of-function on synaptic plasticity

ES Na, ED Nelson, ET Kavalali… - …, 2013 - nature.com
Abstract Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional regulator of gene
expression that is an important epigenetic factor in the maintenance and development of the …

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice

KKE Gadalla, MES Bailey, RC Spike, PD Ross… - Molecular Therapy, 2013 - cell.com
Typical Rett syndrome (RTT) is a pediatric disorder caused by loss-of-function mutations in
the methyl-CpG binding protein 2 (MECP2) gene. The demonstrated reversibility of RTT-like …

Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome

L Robinson, J Guy, L McKay, E Brockett, RC Spike… - Brain, 2012 - academic.oup.com
Rett syndrome is a neurological disorder caused by mutation of the X-linked MECP2 gene.
Mice lacking functional Mecp2 display a spectrum of Rett syndrome-like signs, including …

Breathing challenges in Rett syndrome: lessons learned from humans and animal models

JM Ramirez, CS Ward, JL Neul - Respiratory physiology & neurobiology, 2013 - Elsevier
Breathing disturbances are a major challenge in Rett Syndrome (RTT). These disturbances
are more pronounced during wakefulness; but irregular breathing occurs also during sleep …

A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission

ES Na, ED Nelson, M Adachi, AE Autry… - Journal of …, 2012 - Soc Neuroscience
Rett syndrome and MECP2 duplication syndrome are neurodevelopmental disorders that
arise from loss-of-function and gain-of-function alterations in methyl-CpG binding protein 2 …