Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
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Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
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69678 Bron CedexHoraires
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Mention de date : February 2015
Paru le : 01/02/2015 |
[n° ou bulletin]
[n° ou bulletin]
- February 2015 [Texte imprimé et/ou numérique] . - 2015. Langues : Anglais (eng)
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Dépouillements
Ajouter le résultat dans votre panierZn2+ reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder / Peter J. HAMILTON in Molecular Autism, (February 2015)
[article]
Titre : Zn2+ reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Peter J. HAMILTON, Auteur ; Aparna SHEKAR, Auteur ; Andrea N. BELOVICH, Auteur ; Nicole Bibus CHRISTIANSON, Auteur ; Nicholas G. CAMPBELL, Auteur ; James S. SUTCLIFFE, Auteur ; Aurelio GALLI, Auteur ; Heinrich JG MATTHIES, Auteur ; Kevin ERREGER, Auteur Article en page(s) : p.1-3 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Our laboratory recently characterized a novel autism spectrum disorder (ASD)-associated de novo missense mutation in the human dopamine transporter (hDAT) gene SLC6A3 (hDAT T356M). This hDAT variant exhibits dysfunctional forward and reverse transport properties that may contribute to DA dysfunction in ASD. Here, we report that Zn2+ reverses, at least in part, the functional deficits of ASD-associated hDAT variant T356M. These data suggest that the molecular mechanism targeted by Zn2+ to restore partial function in hDAT T356M may be a novel therapeutic target to rescue functional deficits in hDAT variants associated with ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0002-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277
in Molecular Autism > (February 2015) . - p.1-3[article] Zn2+ reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder [Texte imprimé et/ou numérique] / Peter J. HAMILTON, Auteur ; Aparna SHEKAR, Auteur ; Andrea N. BELOVICH, Auteur ; Nicole Bibus CHRISTIANSON, Auteur ; Nicholas G. CAMPBELL, Auteur ; James S. SUTCLIFFE, Auteur ; Aurelio GALLI, Auteur ; Heinrich JG MATTHIES, Auteur ; Kevin ERREGER, Auteur . - p.1-3.
Langues : Anglais (eng)
in Molecular Autism > (February 2015) . - p.1-3
Index. décimale : PER Périodiques Résumé : Our laboratory recently characterized a novel autism spectrum disorder (ASD)-associated de novo missense mutation in the human dopamine transporter (hDAT) gene SLC6A3 (hDAT T356M). This hDAT variant exhibits dysfunctional forward and reverse transport properties that may contribute to DA dysfunction in ASD. Here, we report that Zn2+ reverses, at least in part, the functional deficits of ASD-associated hDAT variant T356M. These data suggest that the molecular mechanism targeted by Zn2+ to restore partial function in hDAT T356M may be a novel therapeutic target to rescue functional deficits in hDAT variants associated with ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0002-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome / Agnese DI NAPOLI in Molecular Autism, (February 2015)
[article]
Titre : Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur Article en page(s) : p.1-7 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. En ligne : http://dx.doi.org/10.1186/s13229-015-0009-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277
in Molecular Autism > (February 2015) . - p.1-7[article] Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome [Texte imprimé et/ou numérique] / Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-7.
Langues : Anglais (eng)
in Molecular Autism > (February 2015) . - p.1-7
Index. décimale : PER Périodiques Résumé : Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. En ligne : http://dx.doi.org/10.1186/s13229-015-0009-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277