A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
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.
Guardado en:
Autores principales: | , , , , , , , , , , , , , |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2016
|
Materias: | |
Acceso en línea: | https://doaj.org/article/2f97f4e03fb6494dba321c86f0391b33 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
id |
oai:doaj.org-article:2f97f4e03fb6494dba321c86f0391b33 |
---|---|
record_format |
dspace |
spelling |
oai:doaj.org-article:2f97f4e03fb6494dba321c86f0391b332021-12-02T17:32:08ZA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi10.1038/ncomms135862041-1723https://doaj.org/article/2f97f4e03fb6494dba321c86f0391b332016-11-01T00:00:00Zhttps://doi.org/10.1038/ncomms13586https://doaj.org/toc/2041-1723VPS15 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.Corinne StoetzelSéverine BärJohan-Owen De CraeneSophie ScheideckerChristelle EtardJohana ChicherJennifer R. ReckIsabelle PerraultVéronique GeoffroyKirsley ChennenUwe StrählePhilippe HammannSylvie FriantHélène DollfusNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-13 (2016) |
institution |
DOAJ |
collection |
DOAJ |
language |
EN |
topic |
Science Q |
spellingShingle |
Science Q 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 A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi |
description |
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. |
format |
article |
author |
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 |
author_facet |
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 |
author_sort |
Corinne Stoetzel |
title |
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi |
title_short |
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi |
title_full |
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi |
title_fullStr |
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi |
title_full_unstemmed |
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi |
title_sort |
mutation in vps15 (pik3r4) causes a ciliopathy and affects ift20 release from the cis-golgi |
publisher |
Nature Portfolio |
publishDate |
2016 |
url |
https://doaj.org/article/2f97f4e03fb6494dba321c86f0391b33 |
work_keys_str_mv |
AT corinnestoetzel amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT severinebar amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT johanowendecraene amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT sophiescheidecker amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT christelleetard amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT johanachicher amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT jenniferrreck amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT isabelleperrault amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT veroniquegeoffroy amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT kirsleychennen amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT uwestrahle amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT philippehammann amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT sylviefriant amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT helenedollfus amutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT corinnestoetzel mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT severinebar mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT johanowendecraene mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT sophiescheidecker mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT christelleetard mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT johanachicher mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT jenniferrreck mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT isabelleperrault mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT veroniquegeoffroy mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT kirsleychennen mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT uwestrahle mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT philippehammann mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT sylviefriant mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi AT helenedollfus mutationinvps15pik3r4causesaciliopathyandaffectsift20releasefromthecisgolgi |
_version_ |
1718380358705086464 |