{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bizet AA"],"funding":["NIDDK NIH HHS","Howard Hughes Medical Institute"],"pagination":["8666"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4617596"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6"],"pubmed_abstract":["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 complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish e"],"journal":["Nature communications"],"pubmed_title":["Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization."],"pmcid":["PMC4617596"],"funding_grant_id":["DK068306","R01 DK053093","R01 DK068306"],"pubmed_authors":["Becker-Heck A","Dubot P","Hildebrandt F","Ryan R","Gubler MC","Saint-Mezard P","Saunier S","Nitschke P","Benmerah A","Filhol E","Halbritter J","Linghu B","Drummond IA","Weber K","Sahel JA","Elshakhs NAS","Pinson L","Szustakowski JD","Sailer AW","Zarhrate M","Delous M","Oakeley EJ","Salomon R","Antignac C","Yang F","Bizet AA","Krug P","Lasbennes MC","Bouwmeester T","Garfa-Traore M","Serluca F","Cassuto E","Chibout S","Lorentzen E"],"additional_accession":[]},"is_claimable":false,"name":"Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.","description":"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 complex required for ciliogenesis. The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). Microtubule defects are associated with altered epithelialization/polarity in renal cells and with pronephric cysts and microphthalmia in zebrafish e","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015 Oct","modification":"2026-05-03T00:29:19.757Z","creation":"2019-03-27T02:00:37Z"},"accession":"S-EPMC4617596","cross_references":{"pubmed":["26487268"],"doi":["10.1038/ncomms9666"]}}