| Titre : |
SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Hala HARONY-NICOLAS, Auteur ; Ozlem Bozdagi GUNAL, Auteur ; Joseph D. BUXBAUM, Auteur |
| Année de publication : |
2013 |
| Importance : |
p.437-448 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
The SHANK family of genes encodes proteins (Shank1, 2, 3) that are core components of the postsynaptic density. Shank proteins contain multiple domains involved in protein-protein interactions, which link glutamate receptors to the actin cytoskeleton. Recent genetic and functional data implicate mutations in the human Shank2 and Shank3 genes in autism spectrum disorders (ASD). Several genetic mutations and rare copy number variants in these genes have been identified in ASD patients, with SHANK3 disruption now being one of the most common monogenic forms of ASD. Given that Shank and Shank promote the formation, maturation, and enlargement of dendritic spines, supporting the role of synaptic pathology in ASD, it becomes important to make use of animal (typically mouse and rat) models lacking Shanks, to study the underlying synaptic and neuronal pathophysiology of ASD. To this end, different Shank3 rodent models have been generated in an effort to explain the role of SHANK3 mutations in ASD, with the aim of identifying potential therapeutic targets for ASD that can also be tested in these animal models. In the current chapter we summarize in vitro and in vivo studies on Shank proteins, and relate these findings to the dysregulation of glutamate signaling in ASD. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Hala HARONY-NICOLAS, Auteur ; Ozlem Bozdagi GUNAL, Auteur ; Joseph D. BUXBAUM, Auteur . - 2013 . - p.437-448. Langues : Anglais ( eng)
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
The SHANK family of genes encodes proteins (Shank1, 2, 3) that are core components of the postsynaptic density. Shank proteins contain multiple domains involved in protein-protein interactions, which link glutamate receptors to the actin cytoskeleton. Recent genetic and functional data implicate mutations in the human Shank2 and Shank3 genes in autism spectrum disorders (ASD). Several genetic mutations and rare copy number variants in these genes have been identified in ASD patients, with SHANK3 disruption now being one of the most common monogenic forms of ASD. Given that Shank and Shank promote the formation, maturation, and enlargement of dendritic spines, supporting the role of synaptic pathology in ASD, it becomes important to make use of animal (typically mouse and rat) models lacking Shanks, to study the underlying synaptic and neuronal pathophysiology of ASD. To this end, different Shank3 rodent models have been generated in an effort to explain the role of SHANK3 mutations in ASD, with the aim of identifying potential therapeutic targets for ASD that can also be tested in these animal models. In the current chapter we summarize in vitro and in vivo studies on Shank proteins, and relate these findings to the dysregulation of glutamate signaling in ASD. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
|
Faire une suggestion Affiner la rechercheSHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders / Hala HARONY-NICOLAS
