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

doi:10.1038/ncomms9666

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Article

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

Nature communications - 21 Oct 2015

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

Abstract excerpt

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 eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestations of ciliopathies. TRAF3IP1 encodes IFT54, a subunit of the IFT-B...

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PMID: 26487268
DOI: 10.1038/ncomms9666
PMCID: PMC4617596

Genes

MAP4
TNF

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