[article]
| Titre : |
Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur |
| Article en page(s) : |
p.1-5 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. |
| En ligne : |
http://dx.doi.org/10.1186/2040-2392-5-25 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 |
in Molecular Autism > (March 2014) . - p.1-5
[article] Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome [Texte imprimé et/ou numérique] / Jaroslava DURDIAKOVA, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-5. Langues : Anglais ( eng) in Molecular Autism > (March 2014) . - p.1-5
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism Spectrum Conditions (ASC) are a group of developmental conditions which affect communication, social interactions and behaviour. Mitochondrial oxidative dysfunction has been suggested as a mechanism of autism based on the results of multiple genetic association and expression studies. SLC25A12 is a gene encoding a calcium-binding carrier protein that localizes to the mitochondria and is involved in the exchange of aspartate for glutamate in the inner membrane of the mitochondria regulating the cytosolic redox state. rs2056202 SNP in this gene has previously been associated with ASC. SNPs rs6716901 and rs3765166 analysed in this study have not been previously explored in association with AS. |
| En ligne : |
http://dx.doi.org/10.1186/2040-2392-5-25 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 |
|
Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome in Molecular Autism, (March 2014)
