Back to Search
Start Over
Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus
- Source :
- Experimental and Molecular Medicine, Vol 50, Iss 6, Pp 1-17 (2018)
- Publication Year :
- 2018
- Publisher :
- Nature Publishing Group, 2018.
-
Abstract
- Cell cilia: Protein crucial for function identified A protein involved in building and maintaining thin protrusions from cell surfaces called cilia is implicated in “ciliopathies”, diseases in which ciliary function is disrupted. These include polycystic kidney disease and disorders collectively known as ciliary dyskinesias. “Primary cilia” perform sensory functions, detecting external chemical and physical signals and initiating responses within cells. In addition, “motile cilia” beat rhythmically to move fluids surrounding cells. Researchers in Germany and the Netherlands, led by Bernhard Schermer and Max C. Liebau at the University of Cologne, studied a protein called Ruvbl1, known to interact with DNA and other proteins. The researchers found it is crucial for the functioning of both types of cilia. Deleting the gene for Ruvbl1 in mice caused kidney failure and a build-up of fluid in the brain known as hydrocephalus. The research could help understand and ultimately treat ciliopathies.
- Subjects :
- Medicine
Biochemistry
QD415-436
Subjects
Details
- Language :
- English
- ISSN :
- 12263613 and 20926413
- Volume :
- 50
- Issue :
- 6
- Database :
- Directory of Open Access Journals
- Journal :
- Experimental and Molecular Medicine
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.8de13e7b325345b1995d5f539ec1dcfd
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s12276-018-0108-z