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 Sdccag8gt/gt mouse model recapitulated the retinal-renal disease phenotypes and identified impaired DNA damage resp...

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Bibliographic Details
Main Authors: Rannar Airik, Markus Schueler, Merlin Airik, Jang Cho, Kelsey A Ulanowicz, Jonathan D Porath, Toby W Hurd, Simon Bekker-Jensen, Jacob M Schrøder, Jens S Andersen, Friedhelm Hildebrandt
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4880186?pdf=render