| Titre : |
MeCP2 and Autism Spectrum Disorders |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Sarrita ADAMS, Auteur ; Janine M. LASALLE, Auteur |
| Année de publication : |
2013 |
| Importance : |
p.421-436 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Autism spectrum disorders (ASD) are characterized by complex genetic etiologies. Within ASD are a number of syndromic disorders with known genetic bases and autistic features. Rett syndrome (RTT) is an X-linked dominant ASD caused by mutations in the DNA methyl-binding protein MeCP2. A variety of mouse models of MeCP2 deficiency and over-expression have been generated and revealed the role of MeCP2 at the center of a number of other ASD-relevant pathways controlling synapse number and strength. In this chapter, we review the evidence for overlap in MeCP2 function with other ASD implicated genes, including FMR1, MEF2C, FOXG1, CNTNAP2, SHANK3, TSC2, UBE3A, and SYN1. In addition, we discuss what mouse models with these genetic deficiencies have revealed about the specific deficits of synaptic function in ASD and the normal orchestration of synaptic plasticity in the early postnatal brain. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
MeCP2 and Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Sarrita ADAMS, Auteur ; Janine M. LASALLE, Auteur . - 2013 . - p.421-436. Langues : Anglais ( eng)
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Autism spectrum disorders (ASD) are characterized by complex genetic etiologies. Within ASD are a number of syndromic disorders with known genetic bases and autistic features. Rett syndrome (RTT) is an X-linked dominant ASD caused by mutations in the DNA methyl-binding protein MeCP2. A variety of mouse models of MeCP2 deficiency and over-expression have been generated and revealed the role of MeCP2 at the center of a number of other ASD-relevant pathways controlling synapse number and strength. In this chapter, we review the evidence for overlap in MeCP2 function with other ASD implicated genes, including FMR1, MEF2C, FOXG1, CNTNAP2, SHANK3, TSC2, UBE3A, and SYN1. In addition, we discuss what mouse models with these genetic deficiencies have revealed about the specific deficits of synaptic function in ASD and the normal orchestration of synaptic plasticity in the early postnatal brain. |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 |
|
Faire une suggestion Affiner la recherche
