Ontology highlight
ABSTRACT:
SUBMITTER: Dafinger C
PROVIDER: S-EPMC6026120 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Experimental & molecular medicine 20180628 6
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 demons ...[more]