Dafinger, Claudia, Rinschen, Markus M., Borgal, Lori, Ehrenberg, Carolin, Basten, Sander G., Franke, Mareike, Hoehne, Martin, Rauh, Manfred, Goebel, Heike, Bloch, Wilhelm, Wunderlich, F. Thomas, Peters, Dorien J. M., Tasche, Dirk, Mishra, Tripti, Habbig, Sandra, Doetsch, Joerg, Mueller, Roman-Ulrich, Bruening, Jens C., Persigehl, Thorsten, Giles, Rachel H., Benzing, Thomas, Schermer, Bernhard ORCID: 0000-0002-5194-9000 and Liebau, Max C. (2018). Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus. Exp. Mol. Med., 50. NEW YORK: NATURE PUBLISHING GROUP. ISSN 2092-6413

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Abstract

Ciliopathies comprise a large number of hereditary human diseases and syndromes caused by mutations resulting in dysfunction of either primary or motile cilia. Both types of cilia share a similar architecture. While primary cilia are present on most cell types, expression of motile cilia is limited to specialized tissues utilizing ciliary motility. We characterized protein complexes of ciliopathy proteins and identified the conserved AAA-ATPase Ruvbl1 as a common novel component. Here, we demonstrate that Ruvbl1 is crucial for the development and maintenance of renal tubular epithelium in mice: both constitutive and inducible deletion in tubular epithelial cells result in renal failure with tubular dilatations and fewer ciliated cells. Moreover, inducible deletion of Ruvbl1 in cells carrying motile cilia results in hydrocephalus, suggesting functional relevance in both primary and motile cilia. Cilia of Ruvbl1-negative cells lack crucial proteins, consistent with the concept of Ruvbl1-dependent cytoplasmic pre-assembly of ciliary protein complexes.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Dafinger, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rinschen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borgal, LoriUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehrenberg, CarolinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Basten, Sander G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franke, MareikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoehne, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rauh, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goebel, HeikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bloch, WilhelmUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wunderlich, F. ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peters, Dorien J. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tasche, DirkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mishra, TriptiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Habbig, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doetsch, JoergUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mueller, Roman-UlrichUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruening, Jens C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Persigehl, ThorstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Rachel H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benzing, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schermer, BernhardUNSPECIFIEDorcid.org/0000-0002-5194-9000UNSPECIFIED
Liebau, Max C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-182490
DOI: 10.1038/s12276-018-0108-z
Journal or Publication Title: Exp. Mol. Med.
Volume: 50
Date: 2018
Publisher: NATURE PUBLISHING GROUP
Place of Publication: NEW YORK
ISSN: 2092-6413
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
POLYCYSTIC KIDNEY-DISEASE; DYNEIN ARM DEFECTS; AXONEMAL DYNEIN; PROTEOMIC ANALYSIS; CHLAMYDOMONAS-REINHARDTII; CYST GROWTH; GENOME-WIDE; MUTATIONS; COMPLEX; MOUSEMultiple languages
Biochemistry & Molecular Biology; Medicine, Research & ExperimentalMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/18249

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