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@ARTICLE{Xie:1034186,
      author       = {Xie, Song and Zuo, Ke and De Rubeis, Silvia and Ruggerone,
                      Paolo and Carloni, Paolo},
      title        = {{M}olecular basis of the {CYFIP}2 and {NCKAP}1
                      autism‐linked variants in the {WAVE} regulatory complex},
      journal      = {Protein science},
      volume       = {34},
      number       = {1},
      issn         = {0961-8368},
      address      = {Bethesda, Md.},
      publisher    = {Protein Society},
      reportid     = {FZJ-2024-06997},
      pages        = {e5238},
      year         = {2025},
      abstract     = {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 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.},
      cin          = {INM-9},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-9-20140121},
      pnm          = {5252 - Brain Dysfunction and Plasticity (POF4-525)},
      pid          = {G:(DE-HGF)POF4-5252},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {39660913},
      UT           = {WOS:001374415700001},
      doi          = {10.1002/pro.5238},
      url          = {https://juser.fz-juelich.de/record/1034186},
}