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Select item 79885641.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Alice Costantini, Jessica J Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N Tran, Valentina Daponte, Nadi Kirova, Yong‐Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J Warren, Valérie Cormier‐Daire, Ok‐Hwa Kim, Antonella Forlino, Tae‐Joon Cho, Outi Mäkitie

J Bone Miner Res. 2021 Feb; 36(2): 283–297. Published online 2020 Oct 13. doi: 10.1002/jbmr.4177

PMCID:: PMC7988564

Abstract Article PDF–7.0M

Select item 68493592.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Cedric Le Caignec, Benjamin Ory, François Lamoureux, Marie-Francoise O’Donohue, Emilien Orgebin, Pierre Lindenbaum, Stéphane Téletchéa, Manon Saby, Anna Hurst, Katherine Nelson, Shawn R. Gilbert, Yael Wilnai, Leonid Zeitlin, Eitan Segev, Robel Tesfaye, Mathilde Nizon, Benjamin Cogne, Stéphane Bezieau, Loic Geoffroy, Antoine Hamel, Emmanuelle Mayrargue, Benoît de Courtivron, Aliette Decock-Giraudaud, Céline Charrier, Olivier Pichon, Christelle Retière, Richard Redon, Alexander Pepler, Kirsty McWalter, Lydie Da Costa, Annick Toutain, Pierre-Emmanuel Gleizes, Marc Baud’huin, Bertrand Isidor

Am J Hum Genet. 2019 Nov 7; 105(5): 1040–1047. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.024

PMCID:: PMC6849359

Abstract Article PDF–1.9M

Select item 207433.

Cloning and characterization of human karyopherin β3

Nabeel R. Yaseen, Günter Blobel

Proc Natl Acad Sci U S A. 1997 Apr 29; 94(9): 4451–4456. doi: 10.1073/pnas.94.9.4451

PMCID:: PMC20743

Abstract Article PDF–421K

Select item 22673124.

Identification of Protor as a novel Rictor-binding component of mTOR complex-2

Laura R. Pearce, Xu Huang, Jérôme Boudeau, Rafał Pawłowski, Stephan Wullschleger, Maria Deak, Adel F. M. Ibrahim, Robert Gourlay, Mark A. Magnuson, Dario R. Alessi

Biochem J. 2007 Aug 1; 405(Pt 3): 513–522. Prepublished online 2007 Apr 27. Published online 2007 Jul 13. doi: 10.1042/BJ20070540

PMCID:: PMC2267312

Abstract Article PDF–833K

Select item 1865945.

Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse

Weimin Bi, Jiong Yan, Paweł Stankiewicz, Sung-Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koen Devriendt, Małgorzata J.M. Nowaczyk, Ken Inoue, James R. Lupski

Genome Res. 2002 May; 12(5): 713–728. doi: 10.1101/gr.73702

PMCID:: PMC186594

Abstract Article PDF–611K

Select item 72021426.

Model system identification of novel congenital heart disease gene candidates: focus on RPL13

Analyne M Schroeder, Massoud Allahyari, Georg Vogler, Maria A Missinato, Tanja Nielsen, Michael S Yu, Jeanne L Theis, Lars A Larsen, Preeya Goyal, Jill A Rosenfeld, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Paul Grossfeld, Rolf Bodmer

Hum Mol Genet. 2019 Dec 1; 28(23): 3954–3969. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz213

PMCID:: PMC7202142

Abstract Article PDF–119M

Select item 40405307.

Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease

Ian Martin, Jungwoo Wren Kim, Byoung Dae Lee, Ho Chul Kang, Jin-Chong Xu, Hao Jia, Jeannette Stankowski, Min-Sik Kim, Jun Zhong, Manoj Kumar, Shaida A. Andrabi, Yulan Xiong, Dennis W. Dickson, Zbigniew K. Wszolek, Akhilesh Pandey, Ted M. Dawson, Valina L. Dawson

Cell. Author manuscript; available in PMC 2015 Apr 10.

Published in final edited form as: Cell. 2014 Apr 10; 157(2): 472–485. doi: 10.1016/j.cell.2014.01.064

PMCID:: PMC4040530

Abstract Article PDF–3.1M

Select item 95848948.

Role of the E3 ubiquitin-ligase Hakai in intestinal inflammation and cancer bowel disease

Daniel Roca-Lema, Macarena Quiroga, Vineeta Khare, Andrea Díaz-Díaz, Aida Barreiro-Alonso, Andrea Rodríguez-Alonso, Ángel Concha, Gabriela Romay, M. Esperanza Cerdán, Christoph Gasche, Angélica Figueroa

Sci Rep. 2022; 12: 17571. Published online 2022 Oct 20. doi: 10.1038/s41598-022-22295-w

PMCID:: PMC9584894

Abstract Article PDF–2.5M

Select item 46463879.

ATDC (Ataxia Telangiectasia Group D Complementing) Promotes Radioresistance through an Interaction with the RNF8 Ubiquitin Ligase

Huibin Yang, Phillip L. Palmbos, Lidong Wang, Evelyn H. Kim, Gina M. Ney, Chao Liu, Jayendra Prasad, David E. Misek, Xiaochun Yu, Mats Ljungman, Diane M. Simeone

J Biol Chem. 2015 Nov 6; 290(45): 27146–27157. Published online 2015 Sep 17. doi: 10.1074/jbc.M115.665489

PMCID:: PMC4646387

Abstract Article PDF–4.1M

Select item 274240210.

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

Heather L. Ball, Bing Zhang, J. Jacob Riches, Rikesh Gandhi, Jing Li, Johanna M. Rommens, Jeremy S. Myers

Hum Mol Genet. 2009 Oct 1; 18(19): 3684–3695. Published online 2009 Jul 14. doi: 10.1093/hmg/ddp316

PMCID:: PMC2742402

Abstract Article PDF–366K

Select item 186613211.

NFX1-123 and Poly(A) Binding Proteins Synergistically Augment Activation of Telomerase in Human Papillomavirus Type 16 E6-Expressing Cells

Rachel A. Katzenellenbogen, Erin M. Egelkrout, Portia Vliet-Gregg, Lindy C. Gewin, Philip R. Gafken, Denise A. Galloway

J Virol. 2007 Apr; 81(8): 3786–3796. Published online 2007 Jan 31. doi: 10.1128/JVI.02007-06

PMCID:: PMC1866132

Abstract Article PDF–554K

Select item 30584612.

Functional analysis of the human CDC5L complex and identification of its components by mass spectrometry

Paul Ajuh, Bernhard Kuster, Kostya Panov, Joost C.B.M. Zomerdijk, Matthias Mann, Angus I. Lamond

EMBO J. 2000 Dec 1; 19(23): 6569–6581. doi: 10.1093/emboj/19.23.6569

PMCID:: PMC305846

Abstract Article PDF–329K

Select item 288159413.

Transmembrane receptor DCC associates with protein synthesis machinery and regulates translation

Joseph Tcherkezian, Perry A. Brittis, Franziska Thomas, Philippe P. Roux, John G. Flanagan

Cell. Author manuscript; available in PMC 2011 May 14.

Published in final edited form as: Cell. 2010 May 14; 141(4): 632–644. Published online 2010 Apr 29. doi: 10.1016/j.cell.2010.04.008

Correction in:: Cell. 2021 Apr 29; 184(9): 2520.

PMCID:: PMC2881594

Abstract Article PDF–4.4M

Select item 283083514.

Quantitative Nanoproteomics for Protein Complexes (QNanoPX) Related to Estrogen Transcriptional Action

Pai-Chiao Cheng, Hsiang-Kai Chang, Shu-Hui Chen

Mol Cell Proteomics. 2010 Feb; 9(2): 209–224. Published online 2009 Oct 5. doi: 10.1074/mcp.M900183-MCP200

PMCID:: PMC2830835

Abstract Article PDF–550K

Select item 736384915.

Structural snapshots of human pre-60S ribosomal particles before and after nuclear export

Xiaomeng Liang, Mei-Qing Zuo, Yunyang Zhang, Ningning Li, Chengying Ma, Meng-Qiu Dong, Ning Gao

Nat Commun. 2020; 11: 3542. Published online 2020 Jul 15. doi: 10.1038/s41467-020-17237-x

PMCID:: PMC7363849

Abstract Article PDF–3.7M

Select item 983165416.

Sleeve gastrectomy improves lipid dysmetabolism by downregulating the USP20-HSPA2 axis in diet-induced obese mice

Wenjie Zhang, Bowen Shi, Shirui Li, Zenglin Liu, Songhan Li, Shuohui Dong, Yugang Cheng, Jiankang Zhu, Guangyong Zhang, Mingwei Zhong

Front Endocrinol (Lausanne) 2022; 13: 1041027. Published online 2022 Dec 27. doi: 10.3389/fendo.2022.1041027

PMCID:: PMC9831654

Abstract Article PDF–25M

Select item 629714117.

The deubiquitylating enzyme UCHL3 regulates Ku80 retention at sites of DNA damage

Ryotaro Nishi, Paul W. G. Wijnhoven, Yusuke Kimura, Misaki Matsui, Rebecca Konietzny, Qian Wu, Keisuke Nakamura, Tom L. Blundell, Benedikt M. Kessler

Sci Rep. 2018; 8: 17891. Published online 2018 Dec 17. doi: 10.1038/s41598-018-36235-0

PMCID:: PMC6297141

Abstract Article PDF–2.6M

Select item 948511918.

CAF-derived exosomal WEE2-AS1 facilitates colorectal cancer progression via promoting degradation of MOB1A to inhibit the Hippo pathway

Peng Yang, Dongsheng Zhang, Tuo Wang, Jiangzhou Ji, Chi Jin, Chaofan Peng, Yuqian Tan, Jiahui Zhou, Lu Wang, Yifei Feng, Yueming Sun

Cell Death Dis. 2022 Sep; 13(9): 796. Published online 2022 Sep 19. doi: 10.1038/s41419-022-05240-7

PMCID:: PMC9485119

Abstract Article PDF–8.2M

Select item 595809919.

DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components

A. Pascarella, G. Ferrandino, S. C. Credendino, C. Moccia, F. D’Angelo, B. Miranda, C. D’Ambrosio, P. Bielli, O. Spadaro, M. Ceccarelli, A. Scaloni, C. Sette, M. De Felice, G. De Vita, E. Amendola

Sci Rep. 2018; 8: 7794. Published online 2018 May 17. doi: 10.1038/s41598-018-26093-1

PMCID:: PMC5958099

Abstract Article PDF–2.0M

Select item 893327720.

The ubiquitin E3 ligase ARIH1 regulates hnRNP E1 protein stability, EMT and breast cancer progression

Breege V. Howley, Bidyut Mohanty, Annamarie Dalton, Simon Grelet, Joseph Karam, Toros Dincman, Philip H. Howe

Oncogene. 2022; 41(12): 1679–1690. Published online 2022 Jan 31. doi: 10.1038/s41388-022-02199-9

PMCID:: PMC8933277

Abstract Article PDF–9.3M

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