SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling

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 Sdccag8(gt/gt) mouse model recapitulated the retinal-renal disease phenotypes and identified impaired DNA damage re...

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發表在:PLoS One
Main Authors: Airik, Rannar, Schueler, Markus, Airik, Merlin, Cho, Jang, Ulanowicz, Kelsey A., Porath, Jonathan D., Hurd, Toby W., Bekker-Jensen, Simon, Schrøder, Jacob M., Andersen, Jens S., Hildebrandt, Friedhelm
格式: Artigo
語言:Inglês
出版: Public Library of Science 2016
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Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4880186/
https://ncbi.nlm.nih.gov/pubmed/27224062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0156081
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