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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 Common circuit defect of excitatory-inhibitory balance in mouse models of autism / N. GOGOLLA in Journal of Neurodevelopmental Disorders, 1-2 (June 2009)
[article]
Titre : Common circuit defect of excitatory-inhibitory balance in mouse models of autism Type de document : Texte imprimé et/ou numérique Auteurs : N. GOGOLLA, Auteur ; J. J. LEBLANC, Auteur ; K. B. QUAST, Auteur ; T. C. SUDHOF, Auteur ; M. FAGIOLINI, Auteur ; T. K. HENSCH, Auteur Article en page(s) : p.172-81 Langues : Anglais (eng) Mots-clés : Gaba Neuroligin Parvalbumin Vpa Index. décimale : PER Périodiques Résumé : UNLABELLED: One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of development. We examined whether Parvalbumin (PV)-positive inhibitory neurons, which normally drive experience-dependent circuit refinement (Hensch Nat Rev Neurosci 6:877-888, 1), are disrupted across heterogeneous ASD mouse models. We performed a meta-analysis of PV expression in previously published ASD mouse models and analyzed two additional models, reflecting an embryonic chemical insult (prenatal valproate, VPA) or single-gene mutation identified in human patients (Neuroligin-3, NL-3 R451C). PV-cells were reduced in the neocortex across multiple ASD mouse models. In striking contrast to controls, both VPA and NL-3 mouse models exhibited an asymmetric PV-cell reduction across hemispheres in parietal and occipital cortices (but not the underlying area CA1). ASD mouse models may share a PV-circuit disruption, providing new insight into circuit development and potential prevention by treatment of autism. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9023-x) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9023-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341
in Journal of Neurodevelopmental Disorders > 1-2 (June 2009) . - p.172-81[article] Common circuit defect of excitatory-inhibitory balance in mouse models of autism [Texte imprimé et/ou numérique] / N. GOGOLLA, Auteur ; J. J. LEBLANC, Auteur ; K. B. QUAST, Auteur ; T. C. SUDHOF, Auteur ; M. FAGIOLINI, Auteur ; T. K. HENSCH, Auteur . - p.172-81.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-2 (June 2009) . - p.172-81
Mots-clés : Gaba Neuroligin Parvalbumin Vpa Index. décimale : PER Périodiques Résumé : UNLABELLED: One unifying explanation for the complexity of Autism Spectrum Disorders (ASD) may lie in the disruption of excitatory/inhibitory (E/I) circuit balance during critical periods of development. We examined whether Parvalbumin (PV)-positive inhibitory neurons, which normally drive experience-dependent circuit refinement (Hensch Nat Rev Neurosci 6:877-888, 1), are disrupted across heterogeneous ASD mouse models. We performed a meta-analysis of PV expression in previously published ASD mouse models and analyzed two additional models, reflecting an embryonic chemical insult (prenatal valproate, VPA) or single-gene mutation identified in human patients (Neuroligin-3, NL-3 R451C). PV-cells were reduced in the neocortex across multiple ASD mouse models. In striking contrast to controls, both VPA and NL-3 mouse models exhibited an asymmetric PV-cell reduction across hemispheres in parietal and occipital cortices (but not the underlying area CA1). ASD mouse models may share a PV-circuit disruption, providing new insight into circuit development and potential prevention by treatment of autism. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9023-x) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9023-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 Invertebrate Models of Synaptic Transmission in Autism Spectrum Disorders / Manuel RUIZ-RUBIO
Titre : Invertebrate Models of Synaptic Transmission in Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Manuel RUIZ-RUBIO, Auteur ; Fernando CALAHORRO, Auteur ; M. Mar GÁMEZ-DEL-ESTAL, Auteur Année de publication : 2015 Importance : p.157-182 Langues : Anglais (eng) Mots-clés : Drosophila melanogaster Aplysia californica Caenorhabditis elegans Green fluorescent protein Synapse RNAi silencing Gene targeting Neuroligin Neurexin Cognitive abilities Psychiatric disorders Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Invertebrate Models of Synaptic Transmission in Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Manuel RUIZ-RUBIO, Auteur ; Fernando CALAHORRO, Auteur ; M. Mar GÁMEZ-DEL-ESTAL, Auteur . - 2015 . - p.157-182.
Langues : Anglais (eng)
Mots-clés : Drosophila melanogaster Aplysia californica Caenorhabditis elegans Green fluorescent protein Synapse RNAi silencing Gene targeting Neuroligin Neurexin Cognitive abilities Psychiatric disorders Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=265 Exemplaires
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