Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice

Recently, numerous rare de novo mutations have been identified in patients diagnosed with autism spectrum disorders (ASD). However, despite the predicted loss-of-function nature of some of these de novo mutations, the affected individuals are heterozygous carriers, which would suggest that most of t...

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Veröffentlicht in:Nat Commun
Hauptverfasser: Courchet, Virginie, Roberts, Amanda J., Meyer-Dilhet, Géraldine, Del Carmine, Peggy, Lewis, Tommy L., Polleux, Franck, Courchet, Julien
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6191442/
https://ncbi.nlm.nih.gov/pubmed/30327473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-06584-5
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