Autism spectrum disorder: neuropathology and animal models

M Varghese, N Keshav, S Jacot-Descombes… - Acta …, 2017 - Springer
Autism spectrum disorder (ASD) has a major impact on the development and social
integration of affected individuals and is the most heritable of psychiatric disorders. An …

Dendritic spines: the locus of structural and functional plasticity

C Sala, M Segal - Physiological reviews, 2014 - journals.physiology.org
The introduction of high-resolution time lapse imaging and molecular biological tools has
changed dramatically the rate of progress towards the understanding of the complex …

Actin in dendritic spines: connecting dynamics to function

P Hotulainen, CC Hoogenraad - Journal of Cell Biology, 2010 - rupress.org
Dendritic spines are small actin-rich protrusions from neuronal dendrites that form the
postsynaptic part of most excitatory synapses and are major sites of information processing …

[HTML][HTML] Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses

JP Clement, M Aceti, TK Creson, ED Ozkan, Y Shi… - Cell, 2012 - cell.com
Mutations that cause intellectual disability (ID) and autism spectrum disorder (ASD) are
commonly found in genes that encode for synaptic proteins. However, it remains unclear …

ADF/cofilin: a functional node in cell biology

BW Bernstein, JR Bamburg - Trends in cell biology, 2010 - cell.com
Recent findings have significantly expanded our understanding of the regulation of actin-
depolymerizing factor (ADF)/cofilin proteins and the profound multifaceted impact that these …

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 …

[PDF][PDF] Rapid dispersion of SynGAP from synaptic spines triggers AMPA receptor insertion and spine enlargement during LTP

Y Araki, M Zeng, M Zhang, RL Huganir - Neuron, 2015 - cell.com
Summary SynGAP is a Ras-GTPase activating protein highly enriched at excitatory
synapses in the brain. Previous studies have shown that CaMKII and the RAS-ERK pathway …

Glutamate synapses in human cognitive disorders

L Volk, SL Chiu, K Sharma… - Annual review of …, 2015 - annualreviews.org
Accumulating data, including those from large genetic association studies, indicate that
alterations in glutamatergic synapse structure and function represent a common underlying …

Twenty years of SynGAP research: from synapses to cognition

TR Gamache, Y Araki, RL Huganir - Journal of Neuroscience, 2020 - Soc Neuroscience
SynGAP is a potent regulator of biochemical signaling in neurons and plays critical roles in
neuronal function. It was first identified in 1998, and has since been extensively …

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

MH Berryer, FF Hamdan, LL Klitten, RS Møller… - Human …, 2013 - Wiley Online Library
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP‐activating protein, cause
nonsyndromic intellectual disability (NSID). All disease‐causing point mutations identified …