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    • Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization 

      Bizet, Albane A.; Becker-Heck, Anita; Ryan, Rebecca; Weber, Kristina; Filhol, Emilie; Krug, Pauline; Halbritter, Jan; Delous, Marion; Lasbennes, Marie-Christine; Linghu, Bolan; Oakeley, Edward J.; Zarhrate, Mohammed; Nitschké, Patrick; Garfa-Traore, Meriem; Serluca, Fabrizio; Yang, Fan; Bouwmeester, Tewis; Pinson, Lucile; Cassuto, Elisabeth; Dubot, Philippe; Elshakhs, Neveen A. Soliman; Sahel, José A.; Salomon, Rémi; Drummond, Iain A.; Gubler, Marie-Claire; Antignac, Corinne; Chibout, Salahdine; Szustakowski, Joseph D.; Hildebrandt, Friedhelm; Lorentzen, Esben; Sailer, Andreas W.; Benmerah, Alexandre; Saint-Mezard, Pierre; Saunier, Sophie (Nature Pub. Group, 2015)
      Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor-Associated Factor Interacting Protein 1) in ...