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

autor

Johan-Owen De Craene

Isabelle Perrault

Sylvie Friant

Hélène Dollfus

publicat a: Nature Communications

date of publication: 2016-11-24

idioma: anglès

tema principal: ciliopatia

Cites articles 42

Date

Títol

Autors

2015-10-01

Structure and flexibility of the endosomal Vps34 complex reveals the basis of its function on membranes

Jan Steyaert, Roger L. Williams, Nicolas Soler, Yohei Ohashi, Els Pardon, John E Burke, Glenn R Masson, Nicholas T Ktistakis
2015-03-03

VaRank: a simple and powerful tool for ranking genetic variants

Cécile Pizot, Amélie Piton, Jean Muller
2015-02-25

The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway
2015-06-11

Purification of mRNA-programmed translation initiation complexes suitable for mass spectrometry analysis

Angelita Simonetti, Gilbert Eriani, Franck Martin
2015-05-01

Evolution. Systematic humanization of yeast genes reveals conserved functions and genetic modularity

Aashiq H Kachroo, Jon M Laurent, Austin G Meyer, Claus O. Wilke
2014

NRBF2 regulates autophagy and prevents liver injury by modulating Atg14L-linked phosphatidylinositol-3 kinase III activity

Min Li, Jiahong Lu, Zhenyu Yue
2014-07-15

NRBF2 regulates macroautophagy as a component of Vps34 Complex I
2014-10-01

Membrane trafficking. The specificity of vesicle traffic to the Golgi is encoded in the golgin coiled-coil proteins

Sean Munro
2013-12

The roles of evolutionarily conserved functional modules in cilia-related trafficking

Michel R Leroux
2013-09-17

A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2.

Kentaro Katayama, David J. Stephens
2013-09-11

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Jean Muller, Maxence V. Nachury, Uwe Strähle, Hélène Dollfus, Elise Schaefer
2013-04-30

Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease
2012-02

Cilia in vertebrate development and disease

Nicholas Katsanis
2012-10-11

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice

Leonela Amoasii, Belinda Cowling, Karim Hnia, Sylvie Friant, Arnaud Ferry, Gaetan Chicanne, CARMEN investigators group
2012-07-07

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

Jean Muller, Florence Petit, Didier Lacombe, Alain Verloes, Jean-Louis Mandel, Corinne Stoetzel, Claire Redin, Bernard Jost, Hélène Dollfus
2011-02-09

IFT20 is required for opsin trafficking and photoreceptor outer segment development

Gregory J. Pazour
2011-02-01

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

Mondira Kundu, Benoit Viollet
2011-09-01

Modeling human disease in humans: the ciliopathies

Joseph G Gleeson
2011-05-23

Disconnecting the Golgi ribbon from the centrosome prevents directional cell migration and ciliogenesis
2011-03-13

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

Nicholas Katsanis, Susannah Rankin
2010-06-25

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

Steven P. Gygi
2010-04

A method and server for predicting damaging missense mutations

Peer Bork, Leonid Peshkin
2010-09-01

The cell biology of vision
2009-07-14

Structure and Function of Vps15 in the Endosomal G Protein Signaling Pathway ,

John Sondek
2009-06

The nonmotile ciliopathies
2009-04-03

The vertebrate primary cilium in development, homeostasis, and disease
2008-12

The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex

Gregory J. Pazour
2008-11-03

Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease
2008-03-03

The PI 3-kinase regulator Vps15 is required for autophagic clearance of protein aggregates.

Tor Erik Rusten, Harald Stenmark
2007-06-01

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Maxence V. Nachury, Diane C Slusarski, Val C Sheffield
2007-05-25

p53 activation by knockdown technologies

Steven A. Farber, Charles Brenner
2007-10-01

A suite of Gateway cloning vectors for high-throughput genetic analysis in Saccharomyces cerevisiae

Susan Lindquist, Aaron D Gitler

Article - wd:Q28593154

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