Literature DB >> 19183273

X-linked mental retardation: focus on synaptic function and plasticity.

Yann Humeau1, Frédéric Gambino, Jamel Chelly, Nicolas Vitale.   

Abstract

Among mental disorders, mental retardation has been shown to be caused by various factors including a large array of genetic mutations. On the basis of remarkable progress, the emerging view is that defects in the regulation of synaptic activity and morphogenesis of dendritic spines are apparently common features associated with mutations in several genes implicated in mental retardation. In this review, we will discuss X-linked MR-related gene products that are potentially involved in the normal structure and function of the synapses, with a particular focus on pre- and/or post-synaptic plasticity mechanisms. Progress in understanding the underlying conditions leading to mental retardation will undoubtedly be gained from a closer collaboration of geneticists, physiologists and cognitive neuroscientists, which should enable the establishment of standardized approaches.

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Year:  2009        PMID: 19183273     DOI: 10.1111/j.1471-4159.2009.05881.x

Source DB:  PubMed          Journal:  J Neurochem        ISSN: 0022-3042            Impact factor:   5.372


  22 in total

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4.  Deficits in morphofunctional maturation of hippocampal mossy fiber synapses in a mouse model of intellectual disability.

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5.  Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.

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7.  Postsynaptic density scaffold SAP102 regulates cortical synapse development through EphB and PAK signaling pathway.

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8.  Lack of the presynaptic RhoGAP protein oligophrenin1 leads to cognitive disabilities through dysregulation of the cAMP/PKA signalling pathway.

Authors:  Malik Khelfaoui; Frédéric Gambino; Xander Houbaert; Bruno Ragazzon; Christian Müller; Mario Carta; Frédéric Lanore; Bettadapura N Srikumar; Philippe Gastrein; Marilyn Lepleux; Chun-Lei Zhang; Marie Kneib; Bernard Poulain; Sophie Reibel-Foisset; Nicolas Vitale; Jamel Chelly; Pierre Billuart; Andreas Lüthi; Yann Humeau
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9.  CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

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10.  A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.

Authors:  Ginevra Zanni; Hilde van Esch; Anissa Bensalem; Yoann Saillour; Karine Poirier; Laetitia Castelnau; Hans Hilger Ropers; Arjan P M de Brouwer; Fréderic Laumonnier; Jean-Pierre Fryns; Jamel Chelly
Journal:  Neurogenetics       Date:  2009-10-01       Impact factor: 2.660

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