Ontology highlight
ABSTRACT:
SUBMITTER: Stoetzel C
PROVIDER: S-EPMC5123056 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Nature communications 20161124
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype. Besides being required for trafficking and autophagy, we show that VPS15 regulates primary cilium length in human fibroblasts, as well as ciliary processes in zebrafish. Furthermore, we demonstrate its interaction with the golgin GM130 and its localization to th ...[more]