Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

@article{Sang2011MappingTN,
  title={Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways},
  author={Liyun Sang and Julie J Miller and Kevin C. Corbit and Rachel H. Giles and Matthew J. Brauer and Edgar A. Otto and Lisa M. Baye and Xiaohui Wen and Suzie J Scales and Mandy Kwong and Erik G. Huntzicker and Mindan K. Sfakianos and Wendy Sandoval and Jose Fernando Bazan and Priya Kulkarni and Francesc R. Garcia-Gonzalo and Allen D. Seol and John F. O’Toole and Susanne Held and Heiko M Reutter and William Arbuthnot Sir Lane and Muhammad Arshad Rafiq and Abdul Noor and Muhammad Ansar and Akella Radha Rama Devi and Val C. Sheffield and Diane C Slusarski and John B. Vincent and Daniel A Doherty and Friedhelm Hildebrandt and Jeremy F Reiter and Peter K. Jackson},
  journal={Cell},
  year={2011},
  volume={145},
  pages={513-528}
}
  • Liyun Sang, Julie J Miller, +29 authors Peter K. Jackson
  • Published 2011
  • Biology, Medicine
  • Cell
  • Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and cerebellar/neural tube malformation. Whether defects in kidney, retinal, or neural disease primarily involve ciliary, Hedgehog, or cell polarity pathways remains unclear. Using high-confidence proteomics, we identified 850 interactors copurifying with nine NPHP/JBTS/MKS proteins and discovered three connected modules: "NPHP1-4… CONTINUE READING

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