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001037752 1001_ $$0P:(DE-Juel1)201922$$aXie, Song$$b0
001037752 245__ $$aMolecular basis of the CYFIP2 and NCKAP1 autism-linked variants in the WAVE regulatory complex
001037752 260__ $$c2024
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001037752 520__ $$aThe 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 of the two proteins into the complex. The mutations turn out to be located on the surfaces involving the largest number of hotspots of the complex. Most of them decrease the affinity of the proteins for the rest of the complex, but some have the opposite effect. The results are fully consistent with the available experimental data. The observed changes in the WAVE regulatory complex stability might impact on complex activation and ultimately play a role in the aberrant pathway of the complex, leading to the cell derangement associated with the disease.
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001037752 7001_ $$0P:(DE-Juel1)192214$$aZuo, Ke$$b1$$eCorresponding author$$ufzj
001037752 7001_ $$0P:(DE-HGF)0$$aDe Rubeis, Silvia$$b2
001037752 7001_ $$0P:(DE-HGF)0$$aRuggerone, Paolo$$b3$$eCorresponding author
001037752 7001_ $$0P:(DE-Juel1)145614$$aCarloni, Paolo$$b4$$eCorresponding author$$ufzj
001037752 773__ $$a10.26434/chemrxiv-2024-x3sn8
001037752 8564_ $$uhttps://juser.fz-juelich.de/record/1037752/files/molecular-basis-of-the-cyfip2-and-nckap1-autism-linked-variants-in-the-wave-regulatory-complex.pdf$$yOpenAccess
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001037752 9201_ $$0I:(DE-Juel1)INM-9-20140121$$kINM-9$$lComputational Biomedicine$$x0
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