
- <Centre d'Information et de documentation du CRA Rhône-Alpes
- CRA
- Informations pratiques
-
Adresse
Centre d'information et de documentation
Horaires
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexLundi au Vendredi
Contact
9h00-12h00 13h30-16h00Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Adresse
Détail de l'auteur
Auteur Shari G. BIRNBAUM |
Documents disponibles écrits par cet auteur (3)



Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus / Anahita AMIRI in Autism Research, 7-1 (February 2014)
![]()
[article]
Titre : Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus Type de document : Texte imprimé et/ou numérique Auteurs : Anahita AMIRI, Auteur ; Efrain SANCHEZ-ORTIZ, Auteur ; Woosung CHO, Auteur ; Shari G. BIRNBAUM, Auteur ; Jing XU, Auteur ; Renée M. MCKAY, Auteur ; Luis F. PARADA, Auteur Article en page(s) : p.60-71 Langues : Anglais (eng) Mots-clés : Fragile X Syndrome Fmr1 autism mental retardation Nse-Cre synaptic plasticity Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. En ligne : http://dx.doi.org/10.1002/aur.1342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227
in Autism Research > 7-1 (February 2014) . - p.60-71[article] Analysis of Fmr1 Deletion in a Subpopulation of Post-Mitotic Neurons in Mouse Cortex and Hippocampus [Texte imprimé et/ou numérique] / Anahita AMIRI, Auteur ; Efrain SANCHEZ-ORTIZ, Auteur ; Woosung CHO, Auteur ; Shari G. BIRNBAUM, Auteur ; Jing XU, Auteur ; Renée M. MCKAY, Auteur ; Luis F. PARADA, Auteur . - p.60-71.
Langues : Anglais (eng)
in Autism Research > 7-1 (February 2014) . - p.60-71
Mots-clés : Fragile X Syndrome Fmr1 autism mental retardation Nse-Cre synaptic plasticity Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited mental retardation and the leading cause of autism. FXS is caused by mutation in a single gene, FMR1, which encodes an RNA-binding protein FMRP. FMRP is highly expressed in neurons and is hypothesized to have a role in synaptic structure, function, and plasticity by regulating mRNAs that encode pre- and post-synaptic proteins. Fmr1 knockout (KO) mice have been used as a model to study FXS. These mice have been reported to show a great degree of phenotypic variability based on the genetic background, environmental signals, and experimental methods. In this study, we sought to restrict FMRP deletion to two brain regions that have been implicated in FXS and autism. We show that ablating Fmr1 in differentiated neurons of hippocampus and cortex results in dendritic alterations and changes in synaptic marker intensity that are brain region specific. In our conditional mutant mice, FMRP-deleted neurons have activated AKT-mTOR pathway signaling in hippocampus but display no apparent behavioral phenotypes. These results highlight the importance of identifying additional factors that interact with Fmr1 to develop FXS. En ligne : http://dx.doi.org/10.1002/aur.1342 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning / Thomas C. JARAMILLO in Autism Research, 7-2 (April 2014)
![]()
[article]
Titre : Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning Type de document : Texte imprimé et/ou numérique Auteurs : Thomas C. JARAMILLO, Auteur ; Shunan LIU, Auteur ; Ami PETTERSEN, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur Article en page(s) : p.264-272 Mots-clés : animal models behavioral analysis of animal models intellectual disability neuroligin autism Index. décimale : PER Périodiques Résumé : Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. En ligne : http://dx.doi.org/10.1002/aur.1362 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230
in Autism Research > 7-2 (April 2014) . - p.264-272[article] Autism-Related Neuroligin-3 Mutation Alters Social Behavior and Spatial Learning [Texte imprimé et/ou numérique] / Thomas C. JARAMILLO, Auteur ; Shunan LIU, Auteur ; Ami PETTERSEN, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur . - p.264-272.
in Autism Research > 7-2 (April 2014) . - p.264-272
Mots-clés : animal models behavioral analysis of animal models intellectual disability neuroligin autism Index. décimale : PER Périodiques Résumé : Multiple candidate genes have been identified for autism spectrum disorders. While some of these genes reach genome-wide significance, others, such as the R451C point mutation in the synaptic cell adhesion molecule neuroligin-3, appear to be rare. Interestingly, two brothers with the same R451C point mutation in neuroligin-3 present clinically on seemingly disparate sides of the autism spectrum. These clinical findings suggest genetic background may play a role in modifying the penetrance of a particular autism-associated mutation. Animal models may contribute additional support for such mutations as functionally relevant and can provide mechanistic insights. Previously, in collaboration with the Südhof laboratory, we reported that mice with an R451C substitution in neuroligin-3 displayed social deficits and enhanced spatial learning. While some of these behavioral abnormalities have since been replicated independently in the Südhof laboratory, observations from the Crawley laboratory failed to replicate these findings in a similar neuroligin-3 mutant mouse model and suggested that genetic background may contribute to variation in observations across laboratories. Therefore, we sought to replicate our findings in the neuroligin-3 R451C point mutant knock-in mouse model (NL3R451C) in a different genetic background. We backcrossed our NL3R451C mouse line onto a 129S2/SvPasCrl genetic background and repeated a subset of our previous behavioral testing. NL3R451C mice on a 129S2/SvPasCrl displayed social deficits, enhanced spatial learning, and increased locomotor activity. These data extend our previous findings that NL3R451C mice exhibit autism-relevant behavioral abnormalities and further suggest that different genetic backgrounds can modify this behavioral phenotype through epistatic genetic interactions. En ligne : http://dx.doi.org/10.1002/aur.1362 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=230 Genetic background effects in Neuroligin?3 mutant mice: Minimal behavioral abnormalities on C57 background / Thomas C. JARAMILLO in Autism Research, 11-2 (February 2018)
![]()
[article]
Titre : Genetic background effects in Neuroligin?3 mutant mice: Minimal behavioral abnormalities on C57 background Type de document : Texte imprimé et/ou numérique Auteurs : Thomas C. JARAMILLO, Auteur ; Christine Ochoa ESCAMILLA, Auteur ; Shunan LIU, Auteur ; Lauren PECA, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur Année de publication : 2018 Article en page(s) : p.234-244 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Neuroligin?3 (NLGN3) is a postsynaptic cell adhesion protein that interacts with presynaptic ligands including neurexin?1 (NRXN1) [Ichtchenko et al., Journal of Biological Chemistry, 271, 2676–2682, 1996]. Mice harboring a mutation in the NLGN3 gene (NL3R451C) mimicking a mutation found in two brothers with autism spectrum disorder (ASD) were previously generated and behaviorally phenotyped for autism?related behaviors. In these NL3R451C mice generated and tested on a hybrid C57BL6J/129S2/SvPasCrl background, we observed enhanced spatial memory and reduced social interaction [Tabuchi et al., Science, 318, 71–76, 2007]. Curiously, an independently generated second line of mice harboring the same mutation on a C57BL6J background exhibited minimal aberrant behavior, thereby providing apparently discrepant results. To investigate the origin of the discrepancy, we previously replicated the original findings of Tabuchi et al. by studying the same NL3R451C mutation on a pure 129S2/SvPasCrl genetic background. Here we complete the behavioral characterization of the NL3R451C mutation on a pure C57BL6J genetic background to determine if background genetics play a role in the discrepant behavioral outcomes involving NL3R451C mice. NL3R451C mutant mice on a pure C57BL6J background did not display spatial memory enhancements or social interaction deficits. We only observed a decreased startle response and mildly increased locomotor activity in these mice suggesting that background genetics influences behavioral outcomes involving the NL3R451C mutation. Autism Res 2018, 11: 234–244. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Behavioral symptoms of autism can be highly variable, even in cases that involve identical genetic mutations. Previous studies in mice with a mutation of the Neuroligin?3 gene showed enhanced learning and social deficits. We replicated these findings on the same and different genetic backgrounds. In this study, however, the same mutation in mice on a different genetic background did not reproduce our previous findings. Our results suggest that genetic background influences behavioral symptoms of this autism?associated mutation. En ligne : https://doi.org/10.1002/aur.1857 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334
in Autism Research > 11-2 (February 2018) . - p.234-244[article] Genetic background effects in Neuroligin?3 mutant mice: Minimal behavioral abnormalities on C57 background [Texte imprimé et/ou numérique] / Thomas C. JARAMILLO, Auteur ; Christine Ochoa ESCAMILLA, Auteur ; Shunan LIU, Auteur ; Lauren PECA, Auteur ; Shari G. BIRNBAUM, Auteur ; Craig M. POWELL, Auteur . - 2018 . - p.234-244.
Langues : Anglais (eng)
in Autism Research > 11-2 (February 2018) . - p.234-244
Index. décimale : PER Périodiques Résumé : Neuroligin?3 (NLGN3) is a postsynaptic cell adhesion protein that interacts with presynaptic ligands including neurexin?1 (NRXN1) [Ichtchenko et al., Journal of Biological Chemistry, 271, 2676–2682, 1996]. Mice harboring a mutation in the NLGN3 gene (NL3R451C) mimicking a mutation found in two brothers with autism spectrum disorder (ASD) were previously generated and behaviorally phenotyped for autism?related behaviors. In these NL3R451C mice generated and tested on a hybrid C57BL6J/129S2/SvPasCrl background, we observed enhanced spatial memory and reduced social interaction [Tabuchi et al., Science, 318, 71–76, 2007]. Curiously, an independently generated second line of mice harboring the same mutation on a C57BL6J background exhibited minimal aberrant behavior, thereby providing apparently discrepant results. To investigate the origin of the discrepancy, we previously replicated the original findings of Tabuchi et al. by studying the same NL3R451C mutation on a pure 129S2/SvPasCrl genetic background. Here we complete the behavioral characterization of the NL3R451C mutation on a pure C57BL6J genetic background to determine if background genetics play a role in the discrepant behavioral outcomes involving NL3R451C mice. NL3R451C mutant mice on a pure C57BL6J background did not display spatial memory enhancements or social interaction deficits. We only observed a decreased startle response and mildly increased locomotor activity in these mice suggesting that background genetics influences behavioral outcomes involving the NL3R451C mutation. Autism Res 2018, 11: 234–244. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary Behavioral symptoms of autism can be highly variable, even in cases that involve identical genetic mutations. Previous studies in mice with a mutation of the Neuroligin?3 gene showed enhanced learning and social deficits. We replicated these findings on the same and different genetic backgrounds. In this study, however, the same mutation in mice on a different genetic background did not reproduce our previous findings. Our results suggest that genetic background influences behavioral symptoms of this autism?associated mutation. En ligne : https://doi.org/10.1002/aur.1857 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=334