The work done by the fellow together with the host laboratory detailed the localization of the ciliopathy-related protein in non-motile cilia and described the role in cilia assembly, maintenance, ciliary trafficking and signalling, and distribution of other Joubert syndrome-associated proteins. We discovered that this protein directly stabilizes the ciliary scaffold and identified its new co-operations with other proteins in cilia. Excitingly, we discovered that this protein has a similar stabilization role in cell division, which could also contribute to the development of ciliopathies (such as kidney cysts). Moreover, our preliminary results discovered the specific localization and function of this protein in motile cilia. Therefore, this project identified a novel regulator of both non-motile and motile cilia, thus shedding a light on the novel connection between primary and motile ciliopathies. The fellow received extensive training in state-of-the-art techniques related to the field, as well as academic training in project management, grant application (during the grant, the fellow has secured three governmental grants which totals €100,000), research presentation, supervision of the graduate students, and lecture preparation.
The results of this MSCA are available with open access on bioRxiv (doi:10.1101/2021.07.20.453048; doi:10.1101/2022.04.10.487777; doi:10.1101/2022.04.22.489036) published in one peer-reviewed journal (doi:10.1111/febs.16367) while the other article is currently under review. One published article in a peer-reviewed journal with open access was an addition to this action (doi.org/10.1371/journal.pbio.3001708). The data and datasets collected during this MSCA will inform more publications (expected three publications) in the coming year, in addition to the ones produced and published during the period of the fellowship. The results were presented at two virtual conferences, one in person and one in the following two months.
