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Détail de l'auteur
Auteur Janine M. LAMONICA |
Documents disponibles écrits par cet auteur (1)
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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : The Function of MeCP2 and Its Causality in Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Janine M. LAMONICA, Auteur ; Zhaolan ZHOU, Auteur Année de publication : 2016 Importance : p.101-112 Langues : Anglais (eng) Mots-clés : Autism MeCP2 Mouse models Rett syndrome Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00007-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 The Function of MeCP2 and Its Causality in Rett Syndrome [Texte imprimé et/ou numérique] / Janine M. LAMONICA, Auteur ; Zhaolan ZHOU, Auteur . - 2016 . - p.101-112.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism MeCP2 Mouse models Rett syndrome Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00007-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
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