Ontology highlight
ABSTRACT:
SUBMITTER: Matsumura K
PROVIDER: S-EPMC7044294 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Nature communications 20200226 1
Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiological basis behind these disorders remains unknown. Here, we show that POGZ regulates neuronal development and that ASD-related de novo mutations impair neuronal development in the developing mouse br ...[more]