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  1. Trabid patient mutations impede the axonal trafficking of adenomatous polyposis coli to disrupt neurite growth

    This article has 16 authors:
    1. Daniel Frank
    2. Maria Bergamasco
    3. Michael J Mlodzianoski
    4. Andrew Kueh
    5. Ellen Tsui
    6. Cathrine Hall
    7. Georgios Kastrappis
    8. Anne Kathrin Voss
    9. Catriona McLean
    10. Maree Faux
    11. Kelly L Rogers
    12. Bang Tran
    13. Elizabeth Vincan
    14. David Komander
    15. Grant Dewson
    16. Hoanh Tran
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study defines the roles for two different missense mutations observed in patients in the Trabid/ZRANB1 gene associated in children with a range of congenital disorders including reduced brain size. The study is important because the findings have theoretical or practical implications beyond a single subfield, as the study of DUB and cytoskeletal alterations have implications for neurodevelopment broadly. The methods are convincing as they utilize appropriate and validated methodology in line with current state-of-the-art by incorporating knock-in mice of the patient mutations. Many of the reviewer comments were focused on potential next experiments, rather than on evaluation of the data at hand, and the authors have considered these as future studies. The work as presented suggests critical roles for Trabid in the STRIPAK complex mediating APC deubiquitylation.

    Reviewed by eLife

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