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The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation

EMBO J. 2021-05; 
Emanuela Senatore, Francesco Chiuso, Laura Rinaldi, Daniela Intartaglia, Rossella Delle Donne, Emilia Pedone, Bruno Catalanotti, Luciano Pirone, Bianca Fiorillo, Federica Moraca, Giuliana Giamundo, Giovanni Scala, Andrea Raffeiner, Omar Torres-Quesada, Eduard Stefan, Marcel Kwiatkowski, Alienke van Pijkeren, Manuela Morleo, Brunella Franco, Corrado Garbi, Ivan Conte, Antonio Feliciello
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Mutant Libraries A praja2 inactive mutant (praja2rm) carrying cys634 and cys637 changed to alanine was used; E97G‐flag was purchased from Genscript Get A Quote

摘要

The primary cilium is a microtubule-based sensory organelle that dynamically links signalling pathways to cell differentiation, growth, and development. Genetic defects of primary cilia are responsible for genetic disorders known as ciliopathies. Orofacial digital type I syndrome (OFDI) is an X-linked congenital ciliopathy caused by mutations in the OFD1 gene and characterized by malformations of the face, oral cavity, digits and, in the majority of cases, polycystic kidney disease. OFD1 plays a key role in cilium biogenesis. However, the impact of signalling pathways and the role of the ubiquitin-proteasome system (UPS) in the control of OFD1 stability remain unknown. Here, we identify a novel complex assemble... More

关键词

OFD1, PKA, praja2, primary cilium, ubiquitin