Fiche publication
Date publication
janvier 2021
Journal
Molecular autism
Auteurs
Membres identifiés du Cancéropôle Est :
Dr HERAULT Yann
Tous les auteurs :
Martin Lorenzo S, Nalesso V, Chevalier C, Birling MC, Herault Y
Lien Pubmed
Résumé
Gene copy number variants play an important role in the occurrence of neurodevelopmental disorders. Particularly, the deletion of the 16p11.2 locus is associated with autism spectrum disorder, intellectual disability, and several other features. Earlier studies highlighted the implication of Kctd13 genetic imbalance in 16p11.2 deletion through the regulation of the RHOA pathway.
Mots clés
Autism spectrum disorders, Copy number variation, Intellectual disability, KCTD13, Mouse model, Neurodevelopment, Preclinical treatment, Recognition memory
Référence
Mol Autism. 2021 Jan 13;12(1):1