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A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

Authors :
Corinne Stoetzel
Séverine Bär
Johan-Owen De Craene
Sophie Scheidecker
Christelle Etard
Johana Chicher
Jennifer R. Reck
Isabelle Perrault
Véronique Geoffroy
Kirsley Chennen
Uwe Strähle
Philippe Hammann
Sylvie Friant
Hélène Dollfus
Source :
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Publication Year :
2016
Publisher :
Nature Portfolio, 2016.

Abstract

VPS15 is known as a VPS34-associated protein that functions in intracellular trafficking and autophagy. Here the authors identify a role for VPS15 in ciliopathy and ciliary phenotypes, and show that it interacts with GM130 and functions in IFT20-dependent cis-Golgi to cilium trafficking.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
7
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.2f97f4e03fb6494dba321c86f0391b33
Document Type :
article
Full Text :
https://doi.org/10.1038/ncomms13586