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Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes

Verpelli, Chiara and Galimberti, Ivan and Gomez-Mancilla, Baltazar and Sala, Carlo (2013) Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes. Molecular basis for prospective pharmacological treatment strategies in intellectual syndromes. ISSN 1932-8451

Abstract

A number of mutated genes that code for proteins concerned with brain synapse function and circuit formation have been identified in patients affected by intellectual disability syndromes over the last fifteen years. These genes are functionally involved in synapse formation and plasticity, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton, the synthesis and degradation of specific synapse proteins and the control of correct balance between excitatory and inhibitory synapses. In most of the cases even mild alterations in synapse morphology, function and balance give rise to mild or severe intellectual disabilities.
These studies provided the rationale for the development of pharmacological agents that are able to counteract functional synaptic anomalies and potentially improve the symptoms of some of these conditions. This review summarizes recent findings on the functions of some of the genes responsible for intellectual disability syndromes and some of the new potential pharmacological treatments for these diseases.

Item Type: Article
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Date Deposited: 13 Oct 2015 13:13
Last Modified: 13 Oct 2015 13:13
URI: https://oak.novartis.com/id/eprint/9052

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