Article
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
Nature communications - 24 Nov 2016
Stoetzel Corinne, Bär Séverine, De Craene Johan-Owen, Scheidecker Sophie, Etard Christelle, Chicher Johana, Reck Jennifer R, Perrault Isabelle, Geoffroy Véronique, Chennen Kirsley, Strähle Uwe, Hammann Philippe, Friant Sylvie, Dollfus Hélène
Abstract excerpt
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....
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