PMC Links for GEO Profiles (Select 112563927) - PMC

Select item 53082041.

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Utine, Tanju B Özkan, Jonas Denecke, Jurica Vukovic, Maja Di Rocco, Hanna Mandel, Hakan Cangul, Randolph P Matthews, Steve G Thomas, Joshua Z Rappoport, Irwin M Arias, Hartwig Wolburg, A S Knisely, Deirdre A Kelly, Ferenc Müller, Eamonn R Maher, Paul Gissen

Nat Genet. Author manuscript; available in PMC 2017 Feb 14.

Published in final edited form as: Nat Genet. 2010 Apr; 42(4): 303–312. Published online 2010 Feb 28. doi: 10.1038/ng.538

PMCID:: PMC5308204

Abstract Article PDF–886K

Select item 49617392.

Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis

Blerida Banushi, Federico Forneris, Anna Straatman-Iwanowska, Adam Strange, Anne-Marie Lyne, Clare Rogerson, Jemima J. Burden, Wendy E. Heywood, Joanna Hanley, Ivan Doykov, Kornelis R. Straatman, Holly Smith, Danai Bem, Janos Kriston-Vizi, Gema Ariceta, Maija Risteli, Chunguang Wang, Rosalyn E. Ardill, Marcin Zaniew, Julita Latka-Grot, Simon N. Waddington, S. J. Howe, Francesco Ferraro, Asllan Gjinovci, Scott Lawrence, Mark Marsh, Mark Girolami, Laurent Bozec, Kevin Mills, Paul Gissen

Nat Commun. 2016; 7: 12111. Published online 2016 Jul 20. doi: 10.1038/ncomms12111

PMCID:: PMC4961739

Abstract Article PDF–7.9M

Select item 45873273.

Sequential Elution Interactome Analysis of the Mind Bomb 1 Ubiquitin Ligase Reveals a Novel Role in Dendritic Spine Outgrowth

Joseph Mertz, Haiyan Tan, Vishwajeeth Pagala, Bing Bai, Ping-Chung Chen, Yuxin Li, Ji-Hoon Cho, Timothy Shaw, Xusheng Wang, Junmin Peng

Mol Cell Proteomics. 2015 Jul; 14(7): 1898–1910. Published online 2015 Apr 30. doi: 10.1074/mcp.M114.045898

PMCID:: PMC4587327

Abstract Article PDF–2.6M

Select item 45107064.

Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes

Lena Wartosch, Ufuk Günesdogan, Stephen C. Graham, J. Paul Luzio

Traffic. 2015 Jul; 16(7): 727–742. Published online 2015 Apr 30. doi: 10.1111/tra.12283

PMCID:: PMC4510706

Abstract Article PDF–6.4M

Select item 44979595.

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

Danai Bem, Holly Smith, Blerida Banushi, Jemima J. Burden, Ian J. White, Joanna Hanley, Nadia Jeremiah, Frédéric Rieux-Laucat, Ruth Bettels, Gema Ariceta, Andrew D. Mumford, Steven G. Thomas, Steve P. Watson, Paul Gissen

Blood. 2015 Jul 9; 126(2): 133–143. Prepublished online 2015 May 6. doi: 10.1182/blood-2014-12-614677

PMCID:: PMC4497959

Abstract Article

Select item 38421786.

Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes

Karine Tornieri, Stephanie A. Zlatic, Ariana P. Mullin, Erica Werner, Robert Harrison, Steven W. L'Hernault, Victor Faundez

Hum Mol Genet. 2013 Dec 20; 22(25): 5215–5228. Published online 2013 Aug 4. doi: 10.1093/hmg/ddt378

PMCID:: PMC3842178

Abstract Article PDF–1.9M

Select item 31780597.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 30933228.

Clathrin-dependent mechanisms modulate the subcellular distribution of class C Vps/HOPS tether subunits in polarized and nonpolarized cells

Stephanie A. Zlatic, Karine Tornieri, Steven W. L’Hernault, Victor Faundez

Mol Biol Cell. 2011 May 15; 22(10): 1699–1715. doi: 10.1091/mbc.E10-10-0799

PMCID:: PMC3093322

Abstract Article PDF–5.2M

Select item 26427399.

SPE-39 Family Proteins Interact with the HOPS Complex and Function in Lysosomal Delivery

Guang-dan Zhu, Gloria Salazar, Stephanie A. Zlatic, Babar Fiza, Michele M. Doucette, Craig J. Heilman, Allan I. Levey, Victor Faundez, Steven W. L'Hernault

Mol Biol Cell. 2009 Feb 15; 20(4): 1223–1240. doi: 10.1091/mbc.E08-07-0728

PMCID:: PMC2642739

Abstract Article PDF–1.4M

Select item 52892810.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924111.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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