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@ARTICLE{Epting:304581,
      author       = {D. Epting and J. Devane and R. Mertes and S. Kayser and M.
                      Helmstädter and P. Metzger and M. Börries$^*$ and C.
                      Bergmann and E. Ott},
      title        = {{T}ulp3 deficiency results in ciliopathy phenotypes during
                      zebrafish embryogenesis.},
      journal      = {Scientific reports},
      volume       = {15},
      number       = {1},
      issn         = {2045-2322},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-01904},
      pages        = {32435},
      year         = {2025},
      abstract     = {Ciliopathies, caused by defective cilia biogenesis or
                      function, comprise a genetically and clinically diverse
                      group of diseases. Primary cilia play pivotal roles in the
                      regulation of a multitude of signalling pathways during
                      development and tissue homeostasis. Cilia assembly,
                      maintenance and signalling depend on intraflagellar
                      transport (IFT). Tubby-like protein 3 (TULP3) functions as
                      an adapter protein for the ciliary trafficking of diverse
                      membrane cargos via an interaction with the IFT-A complex.
                      Recently, we and others have shown that individuals carrying
                      pathogenic TULP3 variants suffer from progressive liver,
                      kidney and heart disease. In line with these findings, adult
                      Tulp3 knockout zebrafish displayed liver fibrosis and kidney
                      cyst phenotypes. In the present study, we analysed the
                      functional consequences of Tulp3 deficiency during zebrafish
                      embryogenesis. Tulp3 deficiency resulted in well-known
                      ciliopathy-associated phenotypes including pronephric cysts,
                      body curvature and altered left-right asymmetry. Our
                      analysis of urotensin 2-related peptide (Urp) signalling,
                      which is required for proper spine morphogenesis, revealed
                      reduced expression of urp1 in Tulp3 knockout embryos. We
                      also observed scoliosis in a significant number of adult
                      Tulp3 knockout zebrafish. Analysis of ciliogenesis revealed
                      a reduced cilia number and ciliary length in Tulp3 deficient
                      embryos. In addition, Tulp3 deficiency resulted in
                      upregulation of cilia-dependent profibrotic Wnt and Jak/Stat
                      signalling components. Furthermore, we demonstrate that loss
                      of Tulp3 causes upregulation of genes related to liver
                      fibrosis. In conclusion, our data highlights a role of Tulp3
                      in proper cilia formation and function to maintain healthy
                      tissue architecture during zebrafish embryogenesis, and
                      provides further insight into the spectrum of cilia-related
                      phenotypes in adult zebrafish depleted for Tulp3 functions.},
      cin          = {FR01},
      ddc          = {600},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40940409},
      pmc          = {pmc:PMC12432116},
      doi          = {10.1038/s41598-025-16584-3},
      url          = {https://inrepo02.dkfz.de/record/304581},
}