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Article

Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2.

Cells - 29 May 2020

Schaks Matthias, Reinke Michael, Witke Walter, Rottner Klemens

Abstract excerpt

Actin remodeling 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

PMID: 32486060
DOI: 10.3390/cells9061355
PMCID: PMC7348743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular Dissection of Neurodevelopmental Disorder-Causing Mutations in CYFIP2.PMID 32486060Read ↗

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