Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes. (Articolo in rivista)

Type
Label
  • Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes. (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/dneu.22093 (literal)
Alternative label
  • Verpelli C1, Galimberti I2, Gomez-Mancilla B2, Sala C1,3 (2013)
    Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes.
    in Developmental neurobiology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Verpelli C1, Galimberti I2, Gomez-Mancilla B2, Sala C1,3 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1 CNR Institute of Neuroscience, Department of Biotechnology and Translational Medicine, University of Milan, Milan, Italy 2 Novartis Institutes for Biomedical Research (NIBR), Novartis Pharma AG, Basel, CH 3 Neuromuscular Diseases and Neuroimmunology, Besta Foundation Neurological Institute, Milan, Italy (literal)
Titolo
  • Molecular basis for prospective pharmacological treatment strategies in intellectual disability syndromes. (literal)
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 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 a 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. (literal)
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