Journal
EUROPEAN JOURNAL OF PHARMACOLOGY
Volume 719, Issue 1-3, Pages 112-116Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejphar.2013.07.023
Keywords
Intellectual disability; Brain synapses; Dendritic spine; Autism
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Funding
- Telethon - Italy [GGP11095]
- Fondazione CARIPLO
- Italian Institute of technology
- Seed Grant
- Ministry of Health in the frame of ERA-NET NEURON
- Marie Curie Actions 7 Framework Programme: SyMBad Marie Curie (Synapse: from molecules to brain diseases) International Research and Training program
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Intellectual disability syndromes have been found associated to numerous mutated genes that code for proteins functionally involved in synapse formation, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton or the synthesis and degradation of specific synapse proteins. These studies have strongly demonstrated that even mild alterations in synapse morphology and function give rise to mild or severe alteration in intellectual abilities. Interestingly, pharmacological agents that are able to counteract these morphological and functional synaptic anomalies can also improve the symptoms of some of these conditions. This review is summarizing recent discoveries on the functions of some of the genes responsible for intellectual disability syndromes connected with synapse dysfunctions. (C) 2013 Elsevier B.V. All rights reserved.
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