Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

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 …

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 …

[HTML][HTML] GABAergic system dysfunction in autism spectrum disorders

H Zhao, X Mao, C Zhu, X Zou, F Peng… - Frontiers in cell and …, 2022 - frontiersin.org
Autism spectrum disorder (ASD) refers to a series of neurodevelopmental diseases
characterized by two hallmark symptoms, social communication deficits and repetitive …

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 …

Neuronal activity–regulated gene transcription in synapse development and cognitive function

AE West, ME Greenberg - Cold Spring Harbor …, 2011 - cshperspectives.cshlp.org
Activity-dependent plasticity of vertebrate neurons allows the brain to respond to its
environment. During brain development, both spontaneous and sensory-driven neural …

[HTML][HTML] GABAergic signaling as therapeutic target for autism spectrum disorders

G Cellot, E Cherubini - Frontiers in pediatrics, 2014 - frontiersin.org
γ-Aminobutyric acid (GABA), the main inhibitory neurotransmitter in the adult brain, early in
postnatal life exerts a depolarizing and excitatory action. This depends on accumulation of …

[HTML][HTML] Pleiotropic effects of BDNF on the cerebellum and hippocampus: Implications for neurodevelopmental disorders

S Camuso, P La Rosa, MT Fiorenza, S Canterini - Neurobiology of disease, 2022 - Elsevier
Brain-derived neurotrophic factor (BDNF) is one of the most studied neurotrophins in the
mammalian brain, essential not only to the development of the central nervous system but …

[HTML][HTML] Astrocyte morphogenesis is dependent on BDNF signaling via astrocytic TrkB. T1

LM Holt, RD Hernandez, NL Pacheco, B Torres Ceja… - Elife, 2019 - elifesciences.org
Brain-derived neurotrophic factor (BDNF) is a critical growth factor involved in the maturation
of the CNS, including neuronal morphology and synapse refinement. Herein, we …

[HTML][HTML] 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 …