Synaptic proteins and receptors defects in autism spectrum disorders

J Chen, S Yu, Y Fu, X Li - Frontiers in cellular neuroscience, 2014 - frontiersin.org
Recent studies have found that hundreds of genetic variants, including common and rare
variants, rare and de novo mutations, and common polymorphisms contribute to the …

Multiple rare variants in the etiology of autism spectrum disorders

JD Buxbaum - Dialogues in clinical neuroscience, 2009 - Taylor & Francis
Recent studies in autism spectrum disorders (ASDs) support an important role for multiple
rare variants in these conditions. This is a clinically important finding, as, with the …

Synaptopathology involved in autism spectrum disorder

S Guang, N Pang, X Deng, L Yang, F He… - Frontiers in cellular …, 2018 - frontiersin.org
Autism spectrum disorder (ASD) encompasses a group of multifactorial neurodevelopmental
disorders characterized by impaired social communication, social interaction and repetitive …

Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins

S Giovedí, A Corradi, A Fassio, F Benfenati - Frontiers in pediatrics, 2014 - frontiersin.org
Autism spectrum disorders (ASDs) are heterogeneous neurodevelopmental disorders
characterized by deficits in social interaction and social communication, restricted interests …

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 …

Distortion of the normal function of synaptic cell adhesion molecules by genetic variants as a risk for autism spectrum disorders

DN Baig, T Yanagawa, K Tabuchi - Brain research bulletin, 2017 - Elsevier
Synaptic cell adhesion molecules (SCAMs) are a functional category of cell adhesion
molecules that connect pre-and postsynapses by the protein-protein interaction via their …

A synaptic trek to autism

T Bourgeron - Current opinion in neurobiology, 2009 - Elsevier
Autism spectrum disorders (ASD) are diagnosed on the basis of three behavioral features
namely deficits in social communication, absence or delay in language, and stereotypy. The …

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

H Won, W Mah, E Kim - Frontiers in molecular neuroscience, 2013 - frontiersin.org
Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by
impairments in social interaction and communication and restricted and repetitive …

Cellular and synaptic network defects in autism

J Peça, G Feng - Current opinion in neurobiology, 2012 - Elsevier
Many candidate genes are now thought to confer susceptibility to autism spectrum disorders
(ASDs). Here we review four interrelated complexes, each composed of multiple families of …

The neuroligins and the synaptic pathway in Autism Spectrum Disorder

L Trobiani, M Meringolo, T Diamanti, Y Bourne… - Neuroscience & …, 2020 - Elsevier
The genetics underlying autism spectrum disorder (ASD) is complex and heterogeneous,
and de novo variants are found in genes converging in functional biological processes …