The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

@article{Betancur2009TheER,
  title={The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders},
  author={Catalina Betancur and Takeshi Sakurai and Joseph D. Buxbaum},
  journal={Trends in Neurosciences},
  year={2009},
  volume={32},
  pages={402-412}
}

Figures and Tables from this paper

Advances in the understanding of cellular pathogenesis associated with Autism Spectrum Disorder

The major neuro-pathologies underlying ASD are highlighted, however more research is needed to ensure appropriate and efficient therapies can be directed towards ASD.

The neurochemical basis for the treatment of autism spectrum disorders and Fragile X Syndrome.

Cell Adhesion Molecules Involved in Neurodevelopmental Pathways Implicated in 3p-Deletion Syndrome and Autism Spectrum Disorder

It is hypothesized that overlapping molecular mechanisms underlie the pathogenesis of Del3p and ASD, and CNVs disrupting genes encoded within the 3p26.3 region are likely to contribute toward the neurodevelopmental phenotypes observed in individuals affected byDel3p.

Rare structural variation of synapse and neurotransmission genes in autism

It is shown that biological processes associated with synapse function and neurotransmission are significantly enriched, with replication, in ASD subjects versus controls and suggest a sizable pool of additional potential ASD risk loci.

Genetic aspects of autism spectrum disorders: insights from animal models

The genetic aspects of ASD are discussed emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species.

Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity

This review article focuses on the major genes and signaling pathways implicated in ASD and discusses the cellular, molecular and functional studies that have shed light on common dysregulated pathways using in vitro, in vivo and human evidence.

Modeling of Autism Genetic Variations in Mice: Focusing on Synaptic and Microcircuit Dysfunctions

It is reasoned that understanding the synaptic underpinnings of ASD using mouse models may provide mechanistic insights into its etiology and lead to novel therapeutic and interventional strategies.

Involvement of Synaptic Genes in the Pathogenesis of Autism Spectrum Disorders: The Case of Synapsins

Deletion of single Syn genes in mice, in addition to epilepsy, causes core symptoms of ASD by affecting social behavior, social communication, and repetitive behaviors, and Syn knockout mice represent a good experimental model to define synaptic alterations involved in the pathogenesis of ASD and epilepsy.

Converging Pathways in Autism Spectrum Disorders: Interplay between Synaptic Dysfunction and Immune Responses

Recent data demonstrating the involvement of synaptic dysfunction and abnormal immune responses in ASD are reviewed, and the functional interplay between the two phenomena is discussed.
...

References

SHOWING 1-10 OF 147 REFERENCES

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

The findings highlight the utility of “homozygosity mapping” in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.

Common genetic variants on 5p14.1 associate with autism spectrum disorders

The results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to the authors' knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.

Contribution of SHANK3 mutations to autism spectrum disorder.

The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.

Disruption of contactin 4 in three subjects with autism spectrum disorder

It is suggested that mutations affecting CNTN4 function may be relevant to ASD pathogenesis and plays an essential role in the formation, maintenance, and plasticity of neuronal networks.

Neuroligin‐3‐deficient mice: model of a monogenic heritable form of autism with an olfactory deficit

The findings show that the NL‐3 knockout mouse represents a useful animal model for understanding pathophysiological events in monogenic heritable ASD and for developing novel treatment strategies in this devastating human disorder.

Neurexin 1α structural variants associated with autism

Disruption of neurexin 1 associated with autism spectrum disorder.

...