Zn2+ reverses functional deficits in a de novo dopamine transporter variant associated with autism spectrum disorder / Peter J. HAMILTON in Molecular Autism, (February 2015)  

Public ISBD [article]  inMolecular Autism > (February 2015) . - p.1-3 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 [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

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