Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

@article{Baudouin2012SharedSP,
  title={Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism},
  author={St{\'e}phane J. Baudouin and Julien Gaudias and Stefan Gerharz and Laetitia Hatstatt and Kuikui Zhou and Pradeep Punnakkal and Kenji F. Tanaka and Will Spooren and Ren{\'e} Hen and Chris I. De Zeeuw and Kaspar E. Vogt and Peter Scheiffele},
  journal={Science},
  year={2012},
  volume={338},
  pages={128 - 132}
}
Reversing Autism in Mice Autism comprises a heterogeneous group of neurodevelopmental disorders characterized by defects in communication and social inter action. A group of nonsyndromic forms of autism is associated with mutations in the neuroligin genes, which encode postsynaptic adhesion molecules. Using a reversible knockout approach, Baudouin et al. (p. 128, published online 13 September) investigated the in vivo functions of neuroligin-3 in the mouse cerebellum. Mutant mice showed a major… 
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Neuroligins Provide Molecular Links Between Syndromic and Nonsyndromic Autism
TLDR
This Review focuses on the Neuroligin family genes, which encode postsynaptic adhesion proteins that are critical for activity-dependent maturation of synaptic circuits, and integrates data from studies investigating the role of neuroligins at synapses into a model of how neuroligin functions to control synaptic connectivity in the central nervous system and how neurolin dysfunction may participate in the pathophysiology of autism.
The neuroligins and the synaptic pathway in Autism Spectrum Disorder
An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum
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Results suggest that a single point mutation in NLGN3 significantly influences the synapse development and refinement in cerebellar circuitry, which might be related to the pathogenesis of ASD.
Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders
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The main mechanisms proposed to underlie synaptic disruption in FXS and ASDs are summarized and focused on studies conducted on the Fmr1 knock-out mouse model and on FXS-human pluripotent stem cells (hPSCs), emphasizing the differences and even contradictions between mouse and human, whenever possible.
Autism-Associated Neuroligin-3 Mutations Commonly Impair Striatal Circuits to Boost Repetitive Behaviors
Genetic aspects of autism spectrum disorders: insights from animal models
TLDR
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.
Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations
Autistic-Like Traits and Cerebellar Dysfunction in Purkinje Cell PTEN Knock-Out Mice
TLDR
The results unveil new roles of PTEN in PC function and provide the first evidence of a link between the loss ofPTEN in PCs and the genesis of ASD-like traits.
Behavioral training rescues motor deficits in Cyfip1 haploinsufficiency mouse model of autism spectrum disorders
TLDR
New insight is provided into the neuronal and behavioral phenotypes caused by Cyfip1 mutation and proof-of-concept for the development of a behavioral therapy to treat phenotypes associated with 15q11.2 syndromes and ASD is provided.
Possible Implication of the CA2 Hippocampal Circuit in Social Cognition Deficits Observed in the Neuroligin 3 Knock-Out Mouse, a Non-Syndromic Animal Model of Autism
TLDR
Recording data clearly suggest that the selective alterations in network dynamics and GABAergic signaling observed in the CA2 hippocampal region of NLG3 knock-out mice may account for deficits in social memory reminiscent of those observed in autistic patients.
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