The study focuses on CFAP410, a protein essential for ciliogenesis and associated with various disorders. Structural analysis reveals a tetrameric helical bundle in the C-terminal domain crucial for proper localization to the basal body. Mutations disrupting this assembly, like L224P, can result in severe conditions such as spondylometaphyseal dysplasia. In vivo experiments in Trypanosoma brucei confirm the importance of this tetrameric structure for proper function and localization of CFAP410. The findings provide insights into the molecular mechanisms underlying ciliopathies and highlight the significance of protein structure in cellular processes.
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by Stadler,A., ... a las www.biorxiv.org 11-30-2023
https://www.biorxiv.org/content/10.1101/2023.11.30.569397v1Consultas más profundas