A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
出版年份 2016 全文链接
标题
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
作者
关键词
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出版物
Nature Communications
Volume 7, Issue -, Pages 13586
出版商
Springer Nature
发表日期
2016-11-24
DOI
10.1038/ncomms13586
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- The golgin GMAP-210 is required for efficient membrane trafficking in the early secretory pathway
- (2015) P. Roboti et al. JOURNAL OF CELL SCIENCE
- Purification of mRNA-programmed translation initiation complexes suitable for mass spectrometry analysis
- (2015) Johana Chicher et al. PROTEOMICS
- Structure and flexibility of the endosomal Vps34 complex reveals the basis of its function on membranes
- (2015) K. Rostislavleva et al. SCIENCE
- Systematic humanization of yeast genes reveals conserved functions and genetic modularity
- (2015) A. H. Kachroo et al. SCIENCE
- VaRank: a simple and powerful tool for ranking genetic variants
- (2015) Véronique Geoffroy et al. PeerJ
- The PI 3-kinase regulator Vps15 is required for autophagic clearance of protein aggregates
- (2014) Karine Lindmo et al. Autophagy
- NRBF2 regulates macroautophagy as a component of Vps34 Complex I
- (2014) Yanyan Cao et al. BIOCHEMICAL JOURNAL
- The specificity of vesicle traffic to the Golgi is encoded in the golgin coiled-coil proteins
- (2014) M. Wong et al. SCIENCE
- Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease
- (2013) Ivan Nemazanyy et al. EMBO Molecular Medicine
- A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2
- (2013) D. Asante et al. JOURNAL OF CELL SCIENCE
- Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)
- (2013) Sophie Scheidecker et al. JOURNAL OF MEDICAL GENETICS
- The roles of evolutionarily conserved functional modules in cilia-related trafficking
- (2013) Ching-Hwa Sung et al. NATURE CELL BIOLOGY
- Cilia in vertebrate development and disease
- (2012) E. C. Oh et al. DEVELOPMENT
- Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
- (2012) Claire Redin et al. JOURNAL OF MEDICAL GENETICS
- Phosphatase-Dead Myotubularin Ameliorates X-Linked Centronuclear Myopathy Phenotypes in Mice
- (2012) Leonela Amoasii et al. PLoS Genetics
- Modeling Human Disease in Humans: The Ciliopathies
- (2011) Gaia Novarino et al. CELL
- Disconnecting the Golgi ribbon from the centrosome prevents directional cell migration and ciliogenesis
- (2011) Lidia Hurtado et al. JOURNAL OF CELL BIOLOGY
- IFT20 is required for opsin trafficking and photoreceptor outer segment development
- (2011) Brian T. Keady et al. MOLECULAR BIOLOGY OF THE CELL
- AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1
- (2011) Joungmok Kim et al. NATURE CELL BIOLOGY
- The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia
- (2010) Hua Jin et al. CELL
- The cell biology of vision
- (2010) Ching-Hwa Sung et al. JOURNAL OF CELL BIOLOGY
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Structure and Function of Vps15 in the Endosomal G Protein Signaling Pathway,
- (2009) Erin J. Heenan et al. BIOCHEMISTRY
- The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
- (2009) Jantje M. Gerdes et al. CELL
- The nonmotile ciliopathies
- (2009) Jonathan L Tobin et al. GENETICS IN MEDICINE
- Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease
- (2008) Julie A. Jonassen et al. JOURNAL OF CELL BIOLOGY
- The Golgin GMAP210/TRIP11 Anchors IFT20 to the Golgi Complex
- (2008) John A. Follit et al. PLoS Genetics
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