Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies

AJ Sandweiss, VL Brandt, HY Zoghbi - The Lancet Neurology, 2020 - thelancet.com
The X-linked gene encoding MECP2 is involved in two severe and complex
neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett …

Interneuron dysfunction in psychiatric disorders

O Marín - Nature Reviews Neuroscience, 2012 - nature.com
Schizophrenia, autism and intellectual disabilities are best understood as spectrums of
diseases that have broad sets of causes. However, it is becoming evident that these …

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

HY Zoghbi, MF Bear - Cold Spring Harbor perspectives …, 2012 - cshperspectives.cshlp.org
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

Behavioural phenotyping assays for mouse models of autism

JL Silverman, M Yang, C Lord… - Nature Reviews …, 2010 - nature.com
Autism is a heterogeneous neurodevelopmental disorder of unknown aetiology that affects 1
in 100–150 individuals. Diagnosis is based on three categories of behavioural criteria …

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

HT Chao, H Chen, RC Samaco, M Xue, M Chahrour… - Nature, 2010 - nature.com
Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-
CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental …

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

MJ Schmeisser, E Ey, S Wegener, J Bockmann… - Nature, 2012 - nature.com
Autism spectrum disorders comprise a range of neurodevelopmental disorders
characterized by deficits in social interaction and communication, and by repetitive …

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 …

Rett syndrome: insights into genetic, molecular and circuit mechanisms

JPK Ip, N Mellios, M Sur - Nature Reviews Neuroscience, 2018 - nature.com
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene
encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …

Lessons learned from studying syndromic autism spectrum disorders

Y Sztainberg, HY Zoghbi - Nature neuroscience, 2016 - nature.com
Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Epigenetic regulation in psychiatric disorders

N Tsankova, W Renthal, A Kumar… - Nature Reviews …, 2007 - nature.com
Many neurological and most psychiatric disorders are not due to mutations in a single gene;
rather, they involve molecular disturbances entailing multiple genes and signals that control …