Ontology highlight
ABSTRACT:
SUBMITTER: Sang L
PROVIDER: S-EPMC3383065 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Sang Liyun L Miller Julie J JJ Corbit Kevin C KC Giles Rachel H RH Brauer Matthew J MJ Otto Edgar A EA Baye Lisa M LM Wen Xiaohui X Scales Suzie J SJ Kwong Mandy M Huntzicker Erik G EG Sfakianos Mindan K MK Sandoval Wendy W Bazan J Fernando JF Kulkarni Priya P Garcia-Gonzalo Francesc R FR Seol Allen D AD O'Toole John F JF Held Susanne S Reutter Heiko M HM Lane William S WS Rafiq Muhammad Arshad MA Noor Abdul A Ansar Muhammad M Devi Akella Radha Rama AR Sheffield Val C VC Slusarski Diane C DC Vincent John B JB Doherty Daniel A DA Hildebrandt Friedhelm F Reiter Jeremy F JF Jackson Peter K PK
Cell 20110501 4
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: "NPHP1-4-8 ...[more]