Article

Pathogenic <i>DDX3X</i> mutations impair RNA metabolism and neurogenesis during fetal cortical development

2018-05-11

Abstract excerpt

De novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by which DDX3X mutations impair brain function are unknown. Here we use human and mouse genetics, and cell biological and biochemical approaches to elucidate mechanisms...

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Literature Corpus work: dab842cc-8490-5731-b47c-900068039c7d
DOI: 10.1101/317974

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