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Article

Molecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex.

Protein science : a publication of the Protein Society - 1 Jan 2025

Xie Song, Zuo Ke, De Rubeis Silvia, Ruggerone Paolo, Carloni Paolo

Abstract excerpt

The WAVE regulatory pentameric complex regulates actin remodeling. Two components of it (CYFIP2 and NCKAP1) are encoded by genes whose genetic mutations increase the risk for autism spectrum disorder (ASD) and related neurodevelopmental disorders. Here, we use a newly developed computational protocol and hotspot analysis to uncover the functional impact of these mutations at the interface of the correct isoforms...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39660913
DOI: 10.1002/pro.5238
PMCID: PMC11632847

Genes

CYFIP2
NCKAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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