Syddansk Universitet SDCCAG 8 interacts with rab effector proteins rabep 2 and erc 1 and is required for hedgehog signaling

@inproceedings{Airik2016SyddanskUS,
  title={Syddansk Universitet SDCCAG 8 interacts with rab effector proteins rabep 2 and erc 1 and is required for hedgehog signaling},
  author={Rannar Airik and Markus Schueler and Merlin Airik and Jang Cho and Kelsey A. Ulanowicz and Jonathan D. Porath and TobyW. Hurd and Simon Bekker-Jensen and Jens and Sonja Andersen and Friedhelm Hildebrandt},
  year={2016}
}
Recessive mutations in the SDCCAG8 gene cause a nephronophthisis-related ciliopathy with Bardet-Biedl syndrome-like features in humans. Our previous characterization of the orthologous Sdccag8mouse model recapitulated the retinal-renal disease phenotypes and identified impaired DNA damage response signaling as an underlying disease mechanism in the kidney. However, several other phenotypic and mechanistic features of Sdccag8 mice remained unexplored. Here we show that Sdccag8 mice exhibit… CONTINUE READING

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