PMC Links for Gene (Select 10084) - PMC

Victor E. Tapia, Emilia Nicolaescu, Caleb B. McDonald, Valeria Musi, Tsutomu Oka, Yujin Inayoshi, Adam C. Satteson, Virginia Mazack, Jasper Humbert, Christian J. Gaffney, Monique Beullens, Charles E. Schwartz, Christiane Landgraf, Rudolf Volkmer, Annalisa Pastore, Amjad Farooq, Mathieu Bollen, Marius Sudol

J Biol Chem. 2010 Jun 18; 285(25): 19391–19401. Published online 2010 Apr 21. doi: 10.1074/jbc.M109.084525

PMCID:: PMC2885219

Article PDF–1.5M

Select item 13770925.

Renpenning syndrome maps to Xp11.

R E Stevenson, J F Arena, E Ouzts, A Gibson, M H Shokeir, C Vnencak-Jones, H A Lubs, M May, C E Schwartz

Am J Hum Genet. 1998 May; 62(5): 1092–1101. doi: 10.1086/301835

PMCID:: PMC1377092

Summary PDF–428K

Select item 11819566.

Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly

Claus Lenski, Fatima Abidi, Alfons Meindl, Alice Gibson, Matthias Platzer, R. Frank Kooy, Herbert A. Lubs, Roger E. Stevenson, Juliane Ramser, Charles E. Schwartz

Am J Hum Genet. 2004 Apr; 74(4): 777–780. doi: 10.1086/383205

PMCID:: PMC1181956

Article PDF–196K

Select item 1484077.

Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription.

A Komuro, M Saeki, S Kato

Nucleic Acids Res. 1999 May 1; 27(9): 1957–1965. doi: 10.1093/nar/27.9.1957

PMCID:: PMC148407

Summary PDF–421K

Select item 110227088.

Splicing Factor PQBP1 Curtails BAX Expression to Promote Ovarian Cancer Progression

Xihan Liu, Jiaojiao Zhang, Zixiang Wang, Mingyao Yan, Meining Xu, Gaoyuan Li, Victoria Shender, Jian‐jun Wei, Jianqiao Li, Changshun Shao, Shiqian Zhang, Beihua Kong, Kun Song, Zhaojian Liu

Adv Sci (Weinh) 2024 Apr; 11(15): 2306229. Published online 2024 Feb 11. doi: 10.1002/advs.202306229

PMCID:: PMC11022708

Article PDF–6.1M

Select item 83732679.

Novel regulation of the eEF2K/eEF2 pathway: prospects of ‘PQBP1 promotes translational elongation and regulates hippocampal mGluR-LTD by suppressing eEF2 phosphorylation’

Yuqian Shen, Junhai Han, Zi Chao Zhang

J Mol Cell Biol. 2021 May; 13(5): 392–394. Published online 2021 Mar 18. doi: 10.1093/jmcb/mjab017

PMCID:: PMC8373267

Article PDF–170K

Select item 496063810.

Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome

Encarna Pucheta-Martinez, Nicola D’Amelio, Moreno Lelli, Jorge L. Martinez-Torrecuadrada, Marius Sudol, Giorgio Saladino, Francesco Luigi Gervasio

Sci Rep. 2016; 6: 30293. Published online 2016 Jul 26. doi: 10.1038/srep30293

PMCID:: PMC4960638

Article PDF–1.1M

Select item 260603011.

Nematode Homologue of PQBP1, a Mental Retardation Causative Gene, Is Involved in Lipid Metabolism

Keiko Takahashi, Sawako Yoshina, Maekawa Masashi, Wakana Ito, Takao Inoue, Hiroki Shiwaku, Hiroyuki Arai, Shohei Mitani, Hitoshi Okazawa

PLoS One. 2009; 4(1): e4104. Published online 2009 Jan 1. doi: 10.1371/journal.pone.0004104

PMCID:: PMC2606030

Article PDF–450K

Select item 710531512.

The Renpenning syndrome–associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor

Xian Liu, Lin-Xia Dou, Junhai Han, Zi Chao Zhang

J Biol Chem. 2020 Mar 27; 295(13): 4093–4100. Published online 2020 Feb 10. doi: 10.1074/jbc.RA119.012214

PMCID:: PMC7105315

Article PDF–1.6M

Select item 311004013.

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Lars R Jensen, Wei Chen, Bettina Moser, Bettina Lipkowitz, Christopher Schroeder, Luciana Musante, Andreas Tzschach, Vera M Kalscheuer, Ilaria Meloni, Martine Raynaud, Hilde van Esch, Jamel Chelly, Arjan P M de Brouwer, Anna Hackett, Sigrun van der Haar, Wolfram Henn, Jozef Gecz, Olaf Riess, Michael Bonin, Richard Reinhardt, Hans-Hilger Ropers, Andreas W Kuss

Eur J Hum Genet. 2011 Jun; 19(6): 717–720. Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.244

PMCID:: PMC3110040

Article PDF–227K

Select item 450323714.

PQBP1 is a Proximal Sensor of the cGAS-dependent Innate Response to HIV-1

Sunnie M. Yoh, Monika Schneider, Janna Seifried, Stephen Soonthornvacharin, Rana E. Akleh, Kevin C. Olivieri, Paul D. De Jesus, Chunhai Ruan, Elisa de Castro, Pedro A. Ruiz, David Germanaud, Vincent des Portes, Adolfo García-Sastre, Renate König, Sumit K. Chanda

Cell. Author manuscript; available in PMC 2016 Jun 4.

Published in final edited form as: Cell. 2015 Jun 4; 161(6): 1293–1305. doi: 10.1016/j.cell.2015.04.050

PMCID:: PMC4503237

Article PDF–4.7M

Select item 859298415.

Tau activates microglia via the PQBP1-cGAS-STING pathway to promote brain inflammation

Meihua Jin, Hiroki Shiwaku, Hikari Tanaka, Takayuki Obita, Sakurako Ohuchi, Yuki Yoshioka, Xiaocen Jin, Kanoh Kondo, Kyota Fujita, Hidenori Homma, Kazuyuki Nakajima, Mineyuki Mizuguchi, Hitoshi Okazawa

Nat Commun. 2021; 12: 6565. Published online 2021 Nov 15. doi: 10.1038/s41467-021-26851-2

PMCID:: PMC8592984

Article PDF–9.4M

Select item 361360916.

PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth

Qingqing Wang, Michael J. Moore, Guillaume Adelmant, Jarrod A. Marto, Pamela A. Silver

Genes Dev. 2013 Mar 15; 27(6): 615–626. doi: 10.1101/gad.212308.112

PMCID:: PMC3613609

Article PDF–1.5M

Select item 271353217.

Anterograde Transport of Surfactant Protein C Proprotein to Distal Processing Compartments Requires PPDY-mediated Association with Nedd4 Ubiquitin Ligases

Adam Kotorashvili, Scott J. Russo, Surafel Mulugeta, Susan Guttentag, Michael F. Beers

J Biol Chem. 2009 Jun 12; 284(24): 16667–16678. Published online 2009 Apr 14. doi: 10.1074/jbc.M109.002816

PMCID:: PMC2713532

Article PDF–1.3M

Select item 287200718.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick S Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O'Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matt Blow, Chris Greenman, Yali Xue, Chris Tyler-Smith, Deborah Thompson, Kristian Gray, Jenny Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, Rachel Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon Teague, Adam Butler, Andrew Jenkinson, Mingming Jia, David Richardson, Rebecca Shepherd, Richard Wooster, M Isabel Tejada, Francisco Martinez, Gemma Carvill, Rene Goliath, Arjan P M de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans-Hilger Ropers, Fatima E Abidi, Anand K Srivastava, James Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John L Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F Easton, Jackie Boyle, Michael Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E Stevenson, Martin Bobrow, Gillian Turner, Charles E Schwartz, Jozef Gecz, F Lucy Raymond, P Andrew Futreal, Michael R Stratton

Nat Genet. Author manuscript; available in PMC 2010 May 18.

Published in final edited form as: Nat Genet. 2009 May; 41(5): 535–543. Published online 2009 Apr 19. doi: 10.1038/ng.367

PMCID:: PMC2872007

Article PDF–546K

Select item 454612219.

Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development

Yu Hasegawa, Deanne Taylor, Dmitry A. Ovchinnikov, Ernst J. Wolvetang, Laurence de Torrenté, Jessica C. Mar

PLoS Genet. 2015 Aug; 11(8): e1005428. Published online 2015 Aug 19. doi: 10.1371/journal.pgen.1005428

PMCID:: PMC4546122

Article PDF–4.3M

Select item 293809520.

Proteomics Analysis of the Estrogen Receptor α Receptosome

Ivan Nalvarte, Thomas Schwend, Jan-Åke Gustafsson

Mol Cell Proteomics. 2010 Jul; 9(7): 1411–1422. doi: 10.1074/mcp.M900457-MCP200

PMCID:: PMC2938095

Article PDF–854K

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