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Select item 75847291.

Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review

Urania Kotzaeridou, Sara K. Young-Baird, Vanessa Suckow, Alexis G. Thornburg, Matias Wagner, Inga Harting, Stine Christ, Tim Strom, Thomas E. Dever, Vera M. Kalscheuer

Clin Genet. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Clin Genet. 2020 Nov; 98(5): 507–514. Published online 2020 Sep 4. doi: 10.1111/cge.13831

PMCID:: PMC7584729

Abstract Article PDF–1.0M

Select item 64920722.

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

Louise C. Gregory, Carolina B. Ferreira, Sara K. Young-Baird, Hywel J. Williams, Magdalena Harakalova, Gijs van Haaften, Sofia A. Rahman, Carles Gaston-Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas E. Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul T. Dattani

EBioMedicine. 2019 Apr; 42: 470–480. Published online 2019 Mar 14. doi: 10.1016/j.ebiom.2019.03.013

PMCID:: PMC6492072

Abstract Article PDF–1.8M

Select item 62677863.

EIF2S3 mutations associated with severe X-linked intellectual disability syndrome MEHMO

Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E. Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, Stefan A. Haas, Joo-Ran Kim, Leda E. Lotspeich-Cole, Daniela Gasperikova, Thomas E. Dever, Vera M. Kalscheuer

Hum Mutat. Author manuscript; available in PMC 2018 Nov 30.

Published in final edited form as: Hum Mutat. 2017 Apr; 38(4): 409–425. Published online 2017 Jan 23. doi: 10.1002/humu.23170

PMCID:: PMC6267786

Abstract Article PDF–2.0M

Select item 63448764.

MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNA_i^Met binding to eukaryotic translation initiation factor eIF2

Sara K Young-Baird, Byung-Sik Shin, Thomas E Dever

Nucleic Acids Res. 2019 Jan 25; 47(2): 855–867. Published online 2018 Dec 4. doi: 10.1093/nar/gky1213

PMCID:: PMC6344876

Abstract Article PDF–2.4M

Select item 269885.

Identification of eIF2Bγ and eIF2γ as cofactors of hepatitis C virus internal ribosome entry site-mediated translation using a functional genomics approach

Martin Krüger, Carmela Beger, Qiang-Xin Li, Peter J. Welch, Richard Tritz, Mark Leavitt, Jack R. Barber, Flossie Wong-Staal

Proc Natl Acad Sci U S A. 2000 Jul 18; 97(15): 8566–8571. doi: 10.1073/pnas.97.15.8566

Correction in:: Proc Natl Acad Sci U S A. 2000 Sep 12; 97(19): 10671.

PMCID:: PMC26988

Abstract Article PDF–299K

Select item 1025796.

Recognition of 5′-terminal TAR structure in human immunodeficiency virus-1 mRNA by eukaryotic translation initiation factor 2

Yitzhak Ben-Asouli, Yona Banai, Hansjoerg Hauser, Raymond Kaempfer

Nucleic Acids Res. 2000 Feb 15; 28(4): 1011–1018. doi: 10.1093/nar/28.4.1011

PMCID:: PMC102579

Abstract Article PDF–611K

Select item 35135547.

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

Guntram Borck, Byung-Sik Shin, Barbara Stiller, Aviva Mimouni-Bloch, Holger Thiele, Joo-Ran Kim, Meghna Thakur, Cindy Skinner, Lara Aschenbach, Pola Smirin-Yosef, Adi Har-Zahav, Gudrun Nürnberg, Janine Altmüller, Peter Frommolt, Kay Hofmann, Osnat Konen, Peter Nürnberg, Arnold Munnich, Charles E. Schwartz, Doron Gothelf, Laurence Colleaux, Thomas E. Dever, Christian Kubisch, Lina Basel-Vanagaite

Mol Cell. Author manuscript; available in PMC 2013 Nov 30.

Published in final edited form as: Mol Cell. 2012 Nov 30; 48(4): 641–646. Published online 2012 Oct 11. doi: 10.1016/j.molcel.2012.09.005

PMCID:: PMC3513554

Abstract Article PDF–1.8M

Select item 70359918.

Suppression of MEHMO syndrome mutation in eIF2 by small molecule ISRIB

Sara K. Young-Baird, Maíra Bertolessi Lourenço, Megan K. Elder, Eric Klann, Stefan Liebau, Thomas E. Dever

Mol Cell. Author manuscript; available in PMC 2021 Feb 20.

Published in final edited form as: Mol Cell. 2020 Feb 20; 77(4): 875–886.e7. Published online 2019 Dec 10. doi: 10.1016/j.molcel.2019.11.008

PMCID:: PMC7035991

Abstract Article PDF–2.1M

Select item 65897769.

PRMT7 methylates eukaryotic translation initiation factor 2α and regulates its role in stress granule formation

Nasim Haghandish, R. Mitchell Baldwin, Alan Morettin, Haben Tesfu Dawit, Hemanta Adhikary, Jean-Yves Masson, Rachid Mazroui, Laura Trinkle-Mulcahy, Jocelyn Côté

Mol Biol Cell. 2019 Mar 15; 30(6): 778–793. doi: 10.1091/mbc.E18-05-0330

Correction in:: Mol Biol Cell. 2019 Dec 1; 30(25): 3073.

PMCID:: PMC6589776

Abstract Article PDF–3.7M

Select item 884485110.

Stepwise assembly of the eukaryotic translation initiation factor 2 complex

Sven Vanselow, Lea Neumann-Arnold, Franziska Wojciech-Moock, Wolfgang Seufert

J Biol Chem. 2022 Feb; 298(2): 101583. Published online 2022 Jan 12. doi: 10.1016/j.jbc.2022.101583

PMCID:: PMC8844851

Abstract Article PDF–1.8M

Select item 828466611.

Biochemical characterization of protease activity of Nsp3 from SARS-CoV-2 and its inhibition by nanobodies

Lee A. Armstrong, Sven M. Lange, Virginia Dee Cesare, Stephen P. Matthews, Raja Sekhar Nirujogi, Isobel Cole, Anthony Hope, Fraser Cunningham, Rachel Toth, Rukmini Mukherjee, Denisa Bojkova, Franz Gruber, David Gray, Paul G. Wyatt, Jindrich Cinatl, Ivan Dikic, Paul Davies, Yogesh Kulathu

PLoS One. 2021; 16(7): e0253364. Published online 2021 Jul 16. doi: 10.1371/journal.pone.0253364

Correction in:: PLoS One. 2024; 19(4): e0302418.

PMCID:: PMC8284666

Abstract Article PDF–2.6M

Select item 740262112.

Structural basis for translational shutdown and immune evasion by the Nsp1 protein of SARS-CoV-2

Matthias Thoms, Robert Buschauer, Michael Ameismeier, Lennart Koepke, Timo Denk, Maximilian Hirschenberger, Hanna Kratzat, Manuel Hayn, Timur Mackens-Kiani, Jingdong Cheng, Jan H. Straub, Christina M. Stürzel, Thomas Fröhlich, Otto Berninghausen, Thomas Becker, Frank Kirchhoff, Konstantin M. J. Sparrer, Roland Beckmann

Science. 2020 Sep 4; 369(6508): 1249–1255. Published online 2020 Jul 17. doi: 10.1126/science.abc8665

PMCID:: PMC7402621

Abstract Article PDF–2.0M

Select item 125149313.

Emergence of Young Human Genes after a Burst of Retroposition in Primates

Ana Claudia Marques, Isabelle Dupanloup, Nicolas Vinckenbosch, Alexandre Reymond, Henrik Kaessmann

PLoS Biol. 2005 Nov; 3(11): e357. Published online 2005 Oct 11. doi: 10.1371/journal.pbio.0030357

PMCID:: PMC1251493

Abstract Article PDF–169K

Select item 859794614.

GRAMD4 inhibits tumour metastasis by recruiting the E3 ligase ITCH to target TAK1 for degradation in hepatocellular carcinoma

Qian yun Ge, Jin Chen, Gan xun Li, Xiao long Tan, Jia Song, Deng Ning, Jie Mo, Peng cheng Du, Qiu meng Liu, Hui fang Liang, Ze yang Ding, Xue wu Zhang, Bi xiang Zhang

Clin Transl Med. 2021 Nov; 11(11): e635. Published online 2021 Nov 17. doi: 10.1002/ctm2.635