Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
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 …
disabilities has greatly informed our understanding of the molecular pathways critical for …
Common mechanisms of excitatory and inhibitory imbalance in schizophrenia and autism spectrum disorders
R Gao, P Penzes - Current molecular medicine, 2015 - ingentaconnect.com
Autism Spectrum Disorders (ASD) and Schizophrenia (SCZ) are cognitive disorders with
complex genetic architectures but overlap** behavioral phenotypes, which suggests …
complex genetic architectures but overlap** behavioral phenotypes, which suggests …
Immune mediators in the brain and peripheral tissues in autism spectrum disorder
ML Estes, AK McAllister - Nature Reviews Neuroscience, 2015 - nature.com
Increasing evidence points to a central role for immune dysregulation in autism spectrum
disorder (ASD). Several ASD risk genes encode components of the immune system and …
disorder (ASD). Several ASD risk genes encode components of the immune system and …
mTOR in brain physiology and pathologies
TOR (target of rapamycin) and its mammalian ortholog mTOR have been discovered in an
effort to understand the mechanisms of action of the immunosuppressant drug rapamycin …
effort to understand the mechanisms of action of the immunosuppressant drug rapamycin …
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 …
gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the …
Glycogen synthase kinase-3 inhibitors: preclinical and clinical focus on CNS-A decade onward
The protein kinase, GSK-3, participates in diverse biological processes and is now
recognized a promising drug discovery target in treating multiple pathological conditions …
recognized a promising drug discovery target in treating multiple pathological conditions …
Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders
BACKGROUND Neurodevelopmental disorders are caused by abnormalities in the
develo** brain. Such abnormalities can occur as a result of germline or somatic mutations …
develo** brain. Such abnormalities can occur as a result of germline or somatic mutations …
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
MJ Lyst, R Ekiert, DH Ebert, C Merusi, J Nowak… - Nature …, 2013 - nature.com
Rett syndrome (RTT) is a severe neurological disorder that is caused by mutations in the
MECP2 gene. Many missense mutations causing RTT are clustered in the DNA-binding …
MECP2 gene. Many missense mutations causing RTT are clustered in the DNA-binding …
MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by
mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a …
mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a …
Genetic and epigenetic networks in intellectual disabilities
H Van Bokhoven - Annual review of genetics, 2011 - annualreviews.org
Mutations in more than 450 different genes have been associated with intellectual disability
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …
(ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this …