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ABSTRACT: Background
Primary cilia facilitate cellular signalling and play critical roles in development, homeostasis, and disease. Their assembly is under the control of Tau-Tubulin Kinase 2 (TTBK2), a key enzyme mutated in patients with spinocerebellar ataxia. Recent work has implicated TTBK2 in the regulation of cilia maintenance and function, but the underlying molecular mechanisms are not understood.Methods
To dissect the role of TTBK2 during cilia growth and maintenance in human cells, we examined disease-related TTBK2 truncations. We used biochemical approaches, proteomics, genetic engineering, and advanced microscopy techniques to unveil molecular events triggered by TTBK2.Results
We demonstrate that truncated TTBK2 protein moieties, unable to localize to the mother c
SUBMITTER: Benk Vyslouzil D
PROVIDER: S-EPMC11809056 | biostudies-literature | 2025 Feb
REPOSITORIES: biostudies-literature