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

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