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Détail de l'auteur
Auteur Sacha GENOVESI |
Documents disponibles écrits par cet auteur (2)
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Titre : GABAergic Dysfunction in Autism and Epilepsy Type de document : Texte imprimé et/ou numérique Auteurs : Sacha GENOVESI, Auteur ; Giovanni PROVENZANO, Auteur ; Mark DUNLEAVY, Auteur ; Paola SGADO, Auteur ; Yuri BOZZI, Auteur Année de publication : 2011 Importance : p.26-48 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/17387 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143 GABAergic Dysfunction in Autism and Epilepsy [Texte imprimé et/ou numérique] / Sacha GENOVESI, Auteur ; Giovanni PROVENZANO, Auteur ; Mark DUNLEAVY, Auteur ; Paola SGADO, Auteur ; Yuri BOZZI, Auteur . - 2011 . - p.26-48.
Langues : Anglais (eng)
Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/17387 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders / Paola SGADO in Molecular Autism, (December 2013)
[article]
Titre : Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Paola SGADO, Auteur ; Giovanni PROVENZANO, Auteur ; Erik DASSI, Auteur ; Valentina ADAMI, Auteur ; Giulia ZUNINO, Auteur ; Sacha GENOVESI, Auteur ; Simona CASAROSA, Auteur ; Yuri BOZZI, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect common biological pathways. To unravel recurrent ASD-related neuropathological mechanisms, we took advantage of the En2-/- mouse model and performed transcriptome profiling on cerebellar and hippocampal adult tissues. Cerebellar and hippocampal tissue samples from three En2-/- and wild type (WT) littermate mice were assessed for differential gene expression using microarray hybridization followed by RankProd analysis. To identify functional categories overrepresented in the differentially expressed genes, we used integrated gene-network analysis, gene ontology enrichment and mouse phenotype ontology analysis. Furthermore, we performed direct enrichment analysis of ASD-associated genes from the SFARI repository in our differentially expressed genes. Given the limited number of animals used in the study, we used permissive criteria and identified 842 differentially expressed genes in En2-/- cerebellum and 862 in the En2-/- hippocampus. Our functional analysis revealed that the molecular signature of En2-/- cerebellum and hippocampus shares convergent pathological pathways with ASD, including abnormal synaptic transmission, altered developmental processes and increased immune response. Furthermore, when directly compared to the repository of the SFARI database, our differentially expressed genes in the hippocampus showed enrichment of ASD-associated genes significantly higher than previously reported. qPCR was performed for representative genes to confirm relative transcript levels compared to those detected in microarrays. Despite the limited number of animals used in the study, our bioinformatic analysis indicates the En2-/- mouse is a valuable tool for investigating molecular alterations related to ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-51 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227
in Molecular Autism > (December 2013)[article] Transcriptome profiling in engrailed-2 mutant mice reveals common molecular pathways associated with autism spectrum disorders [Texte imprimé et/ou numérique] / Paola SGADO, Auteur ; Giovanni PROVENZANO, Auteur ; Erik DASSI, Auteur ; Valentina ADAMI, Auteur ; Giulia ZUNINO, Auteur ; Sacha GENOVESI, Auteur ; Simona CASAROSA, Auteur ; Yuri BOZZI, Auteur.
Langues : Anglais (eng)
in Molecular Autism > (December 2013)
Index. décimale : PER Périodiques Résumé : Transcriptome analysis has been used in autism spectrum disorder (ASD) to unravel common pathogenic pathways based on the assumption that distinct rare genetic variants or epigenetic modifications affect common biological pathways. To unravel recurrent ASD-related neuropathological mechanisms, we took advantage of the En2-/- mouse model and performed transcriptome profiling on cerebellar and hippocampal adult tissues. Cerebellar and hippocampal tissue samples from three En2-/- and wild type (WT) littermate mice were assessed for differential gene expression using microarray hybridization followed by RankProd analysis. To identify functional categories overrepresented in the differentially expressed genes, we used integrated gene-network analysis, gene ontology enrichment and mouse phenotype ontology analysis. Furthermore, we performed direct enrichment analysis of ASD-associated genes from the SFARI repository in our differentially expressed genes. Given the limited number of animals used in the study, we used permissive criteria and identified 842 differentially expressed genes in En2-/- cerebellum and 862 in the En2-/- hippocampus. Our functional analysis revealed that the molecular signature of En2-/- cerebellum and hippocampus shares convergent pathological pathways with ASD, including abnormal synaptic transmission, altered developmental processes and increased immune response. Furthermore, when directly compared to the repository of the SFARI database, our differentially expressed genes in the hippocampus showed enrichment of ASD-associated genes significantly higher than previously reported. qPCR was performed for representative genes to confirm relative transcript levels compared to those detected in microarrays. Despite the limited number of animals used in the study, our bioinformatic analysis indicates the En2-/- mouse is a valuable tool for investigating molecular alterations related to ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-4-51 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227