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Select item 90908081.

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

Elisa Rahikkala, Lea Urpa, Bishwa Ghimire, Hande Topa, Mitja I. Kurki, Maryna Koskela, Mikko Airavaara, Eija Hämäläinen, Katri Pylkäs, Jarmo Körkkö, Helena Savolainen, Anu Suoranta, Aida Bertoli-Avella, Arndt Rolfs, Pirkko Mattila, Mark Daly, Aarno Palotie, Olli Pietiläinen, Jukka Moilanen, Outi Kuismin

Eur J Hum Genet. 2022 May; 30(5): 619–627. Published online 2022 Jan 28. doi: 10.1038/s41431-022-01046-5

PMCID:: PMC9090808

Abstract Article PDF–1.9M

Select item 89439992.

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi, Jingsi Luo

BMC Med Genomics. 2022; 15: 67. Published online 2022 Mar 23. doi: 10.1186/s12920-022-01217-9

PMCID:: PMC8943999

Abstract Article PDF–1.1M

Select item 73340223.

Structure of substrate-bound SMG1-8-9 kinase complex reveals molecular basis for phosphorylation specificity

Lukas M Langer, Yair Gat, Fabien Bonneau, Elena Conti

eLife. 2020; 9: e57127. Published online 2020 May 29. doi: 10.7554/eLife.57127

PMCID:: PMC7334022

Abstract Article PDF–3.4M

Select item 69513424.

Cryo-EM structure of SMG1–SMG8–SMG9 complex

Li Zhu, Liang Li, Yilun Qi, Zishuo Yu, Yanhui Xu

Cell Res. 2019 Dec; 29(12): 1027–1034. Published online 2019 Nov 15. doi: 10.1038/s41422-019-0255-3

PMCID:: PMC6951342

Abstract Article PDF–4.4M

Select item 48332165.

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

Ranad Shaheen, Shams Anazi, Tawfeg Ben-Omran, Mohammed Zain Seidahmed, L. Brianna Caddle, Kristina Palmer, Rehab Ali, Tarfa Alshidi, Samya Hagos, Leslie Goodwin, Mais Hashem, Salma M. Wakil, Mohamed Abouelhoda, Dilek Colak, Stephen A. Murray, Fowzan S. Alkuraya

Am J Hum Genet. 2016 Apr 7; 98(4): 643–652. Published online 2016 Mar 24. doi: 10.1016/j.ajhg.2016.02.010

PMCID:: PMC4833216

Abstract Article PDF–1.9M

Select item 30176016.

Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex

Israel S. Fernández, Akio Yamashita, Ernesto Arias-Palomo, Yumi Bamba, Ruben A. Bartolomé, M. Angeles Canales, Joaquín Teixidó, Shigeo Ohno, Oscar Llorca

Nucleic Acids Res. 2011 Jan; 39(1): 347–358. Published online 2010 Sep 3. doi: 10.1093/nar/gkq749

PMCID:: PMC3017601

Abstract Article PDF–1.4M

Select item 47430107.

The RNA helicase DHX34 functions as a scaffold for SMG1-mediated UPF1 phosphorylation

Roberto Melero, Nele Hug, Andrés López-Perrote, Akio Yamashita, Javier F. Cáceres, Oscar Llorca

Nat Commun. 2016; 7: 10585. Published online 2016 Feb 4. doi: 10.1038/ncomms10585

PMCID:: PMC4743010

Abstract Article PDF–3.3M

Select item 77078358.

Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM

Andres López-Perrote, Nele Hug, Ana González-Corpas, Carlos F Rodríguez, Marina Serna, Carmen García-Martín, Jasminka Boskovic, Rafael Fernandez-Leiro, Javier F Caceres, Oscar Llorca

eLife. 2020; 9: e63042. Published online 2020 Nov 18. doi: 10.7554/eLife.63042

PMCID:: PMC7707835

Abstract Article PDF–2.9M

Select item 45345759.

The RNA Helicase DHX34 Activates NMD by Promoting a Transition from the Surveillance to the Decay-Inducing Complex

Nele Hug, Javier F. Cáceres

Cell Rep. 2014 Sep 25; 8(6): 1845–1856. Published online 2014 Sep 15. doi: 10.1016/j.celrep.2014.08.020

PMCID:: PMC4534575

Abstract Article PDF–2.5M

Select item 268295310.

SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay

Akio Yamashita, Natsuko Izumi, Isao Kashima, Tetsuo Ohnishi, Bonnie Saari, Yukiko Katsuhata, Reiko Muramatsu, Tomoko Morita, Akihiro Iwamatsu, Takahisa Hachiya, Rie Kurata, Hisashi Hirano, Philip Anderson, Shigeo Ohno

Genes Dev. 2009 May 1; 23(9): 1091–1105. doi: 10.1101/gad.1767209

PMCID:: PMC2682953

Abstract Article PDF–1.0M

Select item 827089811.

Reciprocal interaction between SIRT6 and APC/C regulates genomic stability

Helin Wang, Kangze Feng, Qingtao Wang, Haiteng Deng

Sci Rep. 2021; 11: 14253. Published online 2021 Jul 9. doi: 10.1038/s41598-021-93684-w

PMCID:: PMC8270898

Abstract Article PDF–2.6M

Select item 108373212.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 956995513.

A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation

Yulemi Gonzalez Quesada, Luc DesGroseillers

Int J Mol Sci. 2022 Oct; 23(19): 11588. Published online 2022 Sep 30. doi: 10.3390/ijms231911588

PMCID:: PMC9569955

Abstract Article PDF–2.1M

Select item 852757814.

An antibody-based proximity labeling map reveals mechanisms of SARS-CoV-2 inhibition of antiviral immunity

Yuehui Zhang, Limin Shang, Jing Zhang, Yuchen Liu, Chaozhi Jin, Yanan Zhao, Xiaobo Lei, Wenjing Wang, Xia Xiao, Xiuyuan Zhang, Yujiao Liu, Linlin Liu, Meng-Wei Zhuang, Qingkun Mi, Chunyan Tian, Jianwei Wang, Fuchu He, Pei-Hui Wang, Jian Wang

Cell Chem Biol. 2022 Jan 20; 29(1): 5–18.e6. Published online 2021 Oct 20. doi: 10.1016/j.chembiol.2021.10.008

PMCID:: PMC8527578

Abstract Article PDF–4.5M

Select item 31107215.

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka

Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701

PMCID:: PMC311072

Abstract Article PDF–542K

Select item 756688116.

Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism

Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat

Nat Metab. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z

PMCID:: PMC7566881

Abstract Article PDF–4.8M

Select item 905883617.

The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside

Xin Sun, Yeting Hong, Yuhan Shu, Caixia Wu, Guiqin Ye, Hanxiao Chen, Hongying Zhou, Ruilan Gao, Jianbin Zhang

J Ginseng Res. 2022 Mar; 46(2): 266–274. Published online 2021 Jul 8. doi: 10.1016/j.jgr.2021.06.009

PMCID:: PMC9058836

Abstract Article PDF–2.9M

Select item 480585518.

Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways

Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K. Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T. Taylor, Alex von Kriegsheim

Cell Rep. 2016 Mar 22; 14(11): 2745–2760. Published online 2016 Mar 10. doi: 10.1016/j.celrep.2016.02.043

PMCID:: PMC4805855

Abstract Article PDF–4.6M

Select item 732206719.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 508937420.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Abstract Article PDF–1.5M

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