Article
Molecular dissection of neurodevelopmental disorder-causing mutations in CYFIP2
2020-02-13
Abstract excerpt
Actin remodelling is frequently regulated by antagonistic activities driving protrusion and contraction downstream of Rac and Rho small GTPases, respectively. WAVE regulatory complex (WRC), which primarily operates downstream of Rac, plays pivotal roles in neuronal morphogenesis. Recently, two independent studies described de novo mutations in the CYFIP2 subunit of WRC, which caused intellectual disability (ID) in...
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Identifiers and source
- Literature Corpus work
- 5c534a4b-1ce4-53ce-bcf3-cc31a44da8a1
- DOI
- 10.1101/2020.02.11.943332
