Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

@article{Schmeisser2012AutisticlikeBA,
  title={Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2},
  author={Michael J. Schmeisser and Elodie Ey and Stephanie Wegener and Juergen Bockmann and A Vanessa Stempel and Angelika Kuebler and Anna-Lena Janssen and Patrick T. Udvardi and Ehab Shiban and Chris Spilker and Detlef Balschun and Boris V. Skryabin and Susanne tom Dieck and Karl-Heinz Smalla and Dirk Montag and Claire S Leblond and Philippe Faure and Nicolas Torquet and Anne-Marie Le Sourd and Roberto Toro and Andreas Martin Grabrucker and Sarah A. Shoichet and Dietmar Schmitz and Michael R. Kreutz and Thomas Bourgeron and Eckart D. Gundelfinger and Tobias M. Boeckers},
  journal={Nature},
  year={2012},
  volume={486},
  pages={256-260}
}
Autism spectrum disorders comprise a range of neurodevelopmental disorders characterized by deficits in social interaction and communication, and by repetitive behaviour. Mutations in synaptic proteins such as neuroligins, neurexins, GKAPs/SAPAPs and ProSAPs/Shanks were identified in patients with autism spectrum disorder, but the causative mechanisms remain largely unknown. ProSAPs/Shanks build large homo- and heteromeric protein complexes at excitatory synapses and organize the complex… 
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Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
TLDR
It is shown that Shank2-mutant (Shank2−/−) mice carrying a mutation identical to the ASD-associated microdeletion in the human SHANK2 gene exhibit ASD-like behaviours including reduced social interaction, reduced social communication by ultrasonic vocalizations, and repetitive jumping.
Shankopathies in the Developing Brain in Autism Spectrum Disorders
TLDR
The differences in synaptic function and plasticity from development onward in rodent Shank ASD models are explored and areas of research consensus are highlighted and remaining questions and challenges are identified.
Deficiency of Shank2 causes mania-like behavior that responds to mood stabilizers.
TLDR
The behavioral features in Shank2 Δe24 mice support face and predictive validities of this model for bipolar mania, and the composition and functions of NMDA and AMPA receptors were altered at Shank2-deficient synapses, hinting toward the mechanism underlying these behavioral abnormalities.
Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice
SHANK3 (also called PROSAP2) genetic haploinsufficiency is thought to be the major cause of neuropsychiatric symptoms in Phelan-McDermid syndrome (PMS). PMS is a rare genetic disorder that causes a…
Altered Behaviors and Impaired Synaptic Function in a Novel Rat Model With a Complete Shank3 Deletion
TLDR
A novel rat model with a deletion spanning exons 11–21 of Shank3, leading to a complete loss of the major SHANK3 isoforms is established, which will help to further investigate the etiology and assess potential therapeutic target and strategy for Shank3-related neurodevelopmental disorders.
Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors
TLDR
It is found that Shank2 regulates excitatory synapse density, motor coordination, and specific repetitive and anxiety-like behaviors, but is not associated with autistic-like social deficits or repetitive behaviors.
POSH regulates assembly of the NMDAR/PSD-95/Shank complex and synaptic function.
Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice
Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder.
TLDR
To robustly link the structural and functional impairments with the behavioural deficits observed, brain structures forming relevant nodes in networks involved in social and stereotyped behaviours should be targeted in the future.
Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice
TLDR
It is evaluated the possibility that cerebellar Purkinje cells (PCs) represent a critical locus of ASD-like pathophysiology in mice lacking Shank2, and PC intrinsic plasticity and induction of long-term potentiation at the parallel fibre to PC synapse are evaluated.
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