Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID / Daniela M. COCHOY in Molecular Autism, (April 2015)  

Public ISBD [article]  inMolecular Autism > (April 2015) . - p.1-13 Titre : Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID Type de document : Texte imprimé et/ou numérique Auteurs : Daniela M. COCHOY, Auteur ; Alexander KOLEVZON, Auteur ; Yuji KAJIWARA, Auteur ; Michael SCHOEN, Auteur ; Maria PASCUAL-LUCAS, Auteur ; Stacey LURIE, Auteur ; Joseph D. BUXBAUM, Auteur ; Tobias M. BOECKERS, Auteur ; Michael J. SCHMEISSER, Auteur Année de publication : 2015 Article en page(s) : p.1-13 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD, with higher rates in individuals with ASD and intellectual disability (ID). Interestingly, the most relevant mutations are typically de novo and often are frameshift or nonsense mutations resulting in a premature stop and a truncation of SHANK3 protein. En ligne : http://dx.doi.org/10.1186/s13229-015-0020-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID [Texte imprimé et/ou numérique] / Daniela M. COCHOY, Auteur ; Alexander KOLEVZON, Auteur ; Yuji KAJIWARA, Auteur ; Michael SCHOEN, Auteur ; Maria PASCUAL-LUCAS, Auteur ; Stacey LURIE, Auteur ; Joseph D. BUXBAUM, Auteur ; Tobias M. BOECKERS, Auteur ; Michael J. SCHMEISSER, Auteur . - 2015 . - p.1-13. Langues : Anglais (eng) in Molecular Autism > (April 2015) . - p.1-13 Index. décimale : PER Périodiques Résumé : SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD, with higher rates in individuals with ASD and intellectual disability (ID). Interestingly, the most relevant mutations are typically de novo and often are frameshift or nonsense mutations resulting in a premature stop and a truncation of SHANK3 protein. En ligne : http://dx.doi.org/10.1186/s13229-015-0020-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

SHANK Mutations in Intellectual Disability and Autism Spectrum Disorder / Michael J. SCHMEISSER  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : SHANK Mutations in Intellectual Disability and Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Michael J. SCHMEISSER, Auteur ; Chiara VERPELLI, Auteur Année de publication : 2016 Importance : p.151-160 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Intellectual disability  Shank1  Shank2  Shank3  Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Mutations in the three human SHANK genes, which encode the postsynaptic scaffold proteins SHANK1, SHANK2, and SHANK3, are directly responsible for certain types of intellectual disability (ID) and in general for autism spectrum disorder (ASD). These neuropsychiatric conditions are caused by a generalized dysfunction of the brain, most probably owing to altered formation and plasticity of synaptic connections, thus leading to dysfunctional neuronal communication. Most interestingly, SHANK mutations affect individuals with a different grade of severity: that is, patients with SHANK3 mutations exhibit a strong ID and ASD phenotype, whereas patients with SHANK2 or SHANK1 mutations characteristically exhibit milder phenotypes. To summarize current knowledge about the effects of SHANK mutations on the pathogenesis of ID and ASD, we will discuss the impact of SHANK on synaptic function and highlight genotypic and phenotypic variations among mutations. Whereas the foundation of our knowledge on SHANK function began with in vitro studies, in vivo investigation of Shank mutant mice has further advanced our studies. Functional analysis of rodent Shank family members allows us to understand the role of these proteins better in brain development and in the pathogenesis of ID and ASD with the ultimate aim of identifying novel targets to develop effective therapies. With the recent discovery of human induced pluripotent stem cells, the ability to work on human neurons has opened up, potentially allowing for precise genetic mapping and possibly even personalized therapies to be developed. In this chapter, we will present an overview of SHANK function and SHANK mutations from the perspective of both in vitro and in vivo studies pointing to future directions where research on SHANK will likely go. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00010-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA SHANK Mutations in Intellectual Disability and Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Michael J. SCHMEISSER, Auteur ; Chiara VERPELLI, Auteur . - 2016 . - p.151-160. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Intellectual disability  Shank1  Shank2  Shank3  Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Mutations in the three human SHANK genes, which encode the postsynaptic scaffold proteins SHANK1, SHANK2, and SHANK3, are directly responsible for certain types of intellectual disability (ID) and in general for autism spectrum disorder (ASD). These neuropsychiatric conditions are caused by a generalized dysfunction of the brain, most probably owing to altered formation and plasticity of synaptic connections, thus leading to dysfunctional neuronal communication. Most interestingly, SHANK mutations affect individuals with a different grade of severity: that is, patients with SHANK3 mutations exhibit a strong ID and ASD phenotype, whereas patients with SHANK2 or SHANK1 mutations characteristically exhibit milder phenotypes. To summarize current knowledge about the effects of SHANK mutations on the pathogenesis of ID and ASD, we will discuss the impact of SHANK on synaptic function and highlight genotypic and phenotypic variations among mutations. Whereas the foundation of our knowledge on SHANK function began with in vitro studies, in vivo investigation of Shank mutant mice has further advanced our studies. Functional analysis of rodent Shank family members allows us to understand the role of these proteins better in brain development and in the pathogenesis of ID and ASD with the ultimate aim of identifying novel targets to develop effective therapies. With the recent discovery of human induced pluripotent stem cells, the ability to work on human neurons has opened up, potentially allowing for precise genetic mapping and possibly even personalized therapies to be developed. In this chapter, we will present an overview of SHANK function and SHANK mutations from the perspective of both in vitro and in vivo studies pointing to future directions where research on SHANK will likely go. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00010-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

Exemplaires

Code-barres	Cote	Support	Localisation	Section	Disponibilité
aucun exemplaire

Shank1 and Prosap1/Shank2 Mouse Models of Autism / Michael J. SCHMEISSER in Autism - Open Access, 2-4 (December 2012)  

Public ISBD [article]  inAutism - Open Access > 2-4 (December 2012) . - 4 p. Titre : Shank1 and Prosap1/Shank2 Mouse Models of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Michael J. SCHMEISSER, Auteur ; Tobias M. BOECKERS, Auteur Année de publication : 2012 Article en page(s) : 4 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Over the last decade, mutations of genes coding for synaptic proteins including postsynaptic ProSAP/Shank scaffolds, were found to play a central role in autism pathogenesis. Strikingly, alterations within the human genes of all three ProSAP/Shank family members called SHANK1, PROSAP1/SHANK2 and PROSAP2/SHANK3 have been detected in patients with Autism Spectrum Disorders (ASDs). Due to the fact, that the patho-mechanisms caused by those genetic alterations are still far from being understood and that the development of therapeutic options crucially relies on the latter understanding, the generation and thorough analysis of animal models is an essential step. Here, we review existing mouse models of Shank1 and ProSAP1/Shank2 disruption with respect to neurobiological, neurophysiological and neurobehavioral phenotypes and give some future directions towards the conception of therapeutic strategies. En ligne : http://dx.doi.org/10.4172/2165-7890.1000106 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211 [article] Shank1 and Prosap1/Shank2 Mouse Models of Autism [Texte imprimé et/ou numérique] / Michael J. SCHMEISSER, Auteur ; Tobias M. BOECKERS, Auteur . - 2012 . - 4 p. Langues : Anglais (eng) in Autism - Open Access > 2-4 (December 2012) . - 4 p. Index. décimale : PER Périodiques Résumé : Over the last decade, mutations of genes coding for synaptic proteins including postsynaptic ProSAP/Shank scaffolds, were found to play a central role in autism pathogenesis. Strikingly, alterations within the human genes of all three ProSAP/Shank family members called SHANK1, PROSAP1/SHANK2 and PROSAP2/SHANK3 have been detected in patients with Autism Spectrum Disorders (ASDs). Due to the fact, that the patho-mechanisms caused by those genetic alterations are still far from being understood and that the development of therapeutic options crucially relies on the latter understanding, the generation and thorough analysis of animal models is an essential step. Here, we review existing mouse models of Shank1 and ProSAP1/Shank2 disruption with respect to neurobiological, neurophysiological and neurobehavioral phenotypes and give some future directions towards the conception of therapeutic strategies. En ligne : http://dx.doi.org/10.4172/2165-7890.1000106 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211

---

1 (1 - 3 / 3)