[article]
| 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 |
in Molecular Autism > (April 2015) . - p.1-13
[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 |
|
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