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Auteur C. BAGNI |
Documents disponibles écrits par cet auteur (1)
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Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders / S. DE RUBEIS in Journal of Neurodevelopmental Disorders, 3-3 (September 2011)
[article]
Titre : Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : S. DE RUBEIS, Auteur ; C. BAGNI, Auteur Article en page(s) : p.257-69 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The Fragile X syndrome (FXS) is a leading cause of intellectual disability (ID) and autism. The disease is caused by mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein playing multiple functions in RNA metabolism. The expression of a large set of neuronal mRNAs is altered when FMRP is lost, thus causing defects in neuronal morphology and physiology. FMRP regulates mRNA stability, dendritic targeting, and protein synthesis. At synapses, FMRP represses protein synthesis by forming a complex with the Cytoplasmic FMRP Interacting Protein 1 (CYFIP1) and the cap-binding protein eIF4E. Here, we review the clinical, genetic, and molecular aspects of FXS with a special focus on the receptor signaling that regulates FMRP-dependent protein synthesis. We further discuss the FMRP-CYFIP1 complex and its potential relevance for ID and autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9087-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343
in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.257-69[article] Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders [Texte imprimé et/ou numérique] / S. DE RUBEIS, Auteur ; C. BAGNI, Auteur . - p.257-69.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 3-3 (September 2011) . - p.257-69
Index. décimale : PER Périodiques Résumé : The Fragile X syndrome (FXS) is a leading cause of intellectual disability (ID) and autism. The disease is caused by mutations or loss of the Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein playing multiple functions in RNA metabolism. The expression of a large set of neuronal mRNAs is altered when FMRP is lost, thus causing defects in neuronal morphology and physiology. FMRP regulates mRNA stability, dendritic targeting, and protein synthesis. At synapses, FMRP represses protein synthesis by forming a complex with the Cytoplasmic FMRP Interacting Protein 1 (CYFIP1) and the cap-binding protein eIF4E. Here, we review the clinical, genetic, and molecular aspects of FXS with a special focus on the receptor signaling that regulates FMRP-dependent protein synthesis. We further discuss the FMRP-CYFIP1 complex and its potential relevance for ID and autism. En ligne : http://dx.doi.org/10.1007/s11689-011-9087-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343