Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
fueled remarkable advances in our understanding of its potential neurobiological …
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 …
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 …
[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 …
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 …
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 …
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 …
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
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 …
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 …
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
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 …