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Mol Psychiatry. 2012 Jul;17(7):682-93. doi: 10.1038/mp.2011.139. Epub 2011 Oct 25.

Emerging major synaptic signaling pathways involved in intellectual disability.

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Department of Genetic and Development, Institut Cochin, Université Paris Descartes, CNRS, UMR8104, Paris, France.


Genetic causes of intellectual disability (ID) include mutations in proteins with various functions. However, many of these proteins are enriched in synapses and recent investigations point out their crucial role in the subtle regulation of synaptic activity and dendritic spine morphogenesis. Moreover, in addition to genetic data, functional and animal model studies are providing compelling evidence that supports the emerging unifying synapse-based theory for cognitive deficit. In this review, we highlight ID-related gene products involved in synaptic morphogenesis and function, with a particular focus on the emergent signaling pathways involved in synaptic plasticity whose disruption results in cognitive deficit.

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