Synaptic dysfunction and intellectual disability

Advances in Experimental Medicine and Biology
Pamela ValnegriMaria Passafaro

Abstract

Intellectual disability (ID) is a common and highly heterogeneous paediatric disorder with a very severe social impact. Intellectual disability can be caused by environmental and/or genetic factors. Although in the last two decades a number of genes have been discovered whose mutations cause mental retardation, we are still far from identifying the impact of these mutations on brain functions. Many of the genes mutated in ID code for several proteins with a variety of functions: chromatin remodelling, pre-/post-synaptic activity, and intracellular trafficking. The prevailing hypothesis suggests that the ID phenotype could emerge from abnormal cellular processing leading to pre- and/or post-synaptic dysfunction. In this chapter, we focus on the role of small GTPases and adhesion molecules, and we discuss the mechanisms through which they lead to synaptic network dysfunction.

Citations

Aug 27, 2016·Molecular and Cellular Neurosciences·Takeshi Sakurai
Jan 3, 2014·Physiological Reviews·Carlo Sala, Menahem Segal
Jan 31, 2020·Transcultural Psychiatry·Daina Crafa, Saskia K Nagel
Dec 5, 2017·Journal of Neurogenetics·Soohyun LeePaul A Dawson
Dec 10, 2015·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·O A Gomazkov
Apr 21, 2018·Frontiers in Molecular Neuroscience·Eunkyung LieEunjoon Kim
Mar 29, 2018·Human Molecular Genetics·Sébastien JacquemontClaudia Bagni
Oct 1, 2021·Communications Biology·Eunkyung LieEunjoon Kim

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