Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus

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...

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Vydáno v:Exp Mol Med
Hlavní autoři: Dafinger, Claudia, Rinschen, Markus M., Borgal, Lori, Ehrenberg, Carolin, Basten, Sander G., Franke, Mareike, Höhne, Martin, Rauh, Manfred, Göbel, Heike, Bloch, Wilhelm, Wunderlich, F. Thomas, Peters, Dorien J. M., Tasche, Dirk, Mishra, Tripti, Habbig, Sandra, Dötsch, Jörg, Müller, Roman-Ulrich, Brüning, Jens C., Persigehl, Thorsten, Giles, Rachel H., Benzing, Thomas, Schermer, Bernhard, Liebau, Max C.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6026120/
https://ncbi.nlm.nih.gov/pubmed/29959317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s12276-018-0108-z
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