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Select item 104724061.

Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery

Hao Wang, Wenwei Liu, Yuehua Zhang, Qingzhu Liu, Lixin Cai, Yuwu Jiang

Epilepsia Open. 2023 Sep; 8(3): 969–979. Published online 2023 Jul 10. doi: 10.1002/epi4.12770

PMCID:: PMC10472406

Abstract Article PDF–1.5M

Select item 98964722.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Athina Ververi, Sara Zagaglia, Lara Menzies, Julia Baptista, Richard Caswell, Stephanie Baulac, Sian Ellard, Sally Lynch, Genomics England Research Consortium, Thomas S Jacques, Maninder Singh Chawla, Martin Heier, Mari Ann Kulseth, Inger-Lise Mero, Anne Katrine Våtevik, Ichraf Kraoua, Hanene Ben Rhouma, Thouraya Ben Younes, Zouhour Miladi, Ilhem Ben Youssef Turki, Wendy D Jones, Emma Clement, Christin Eltze, Kshitij Mankad, Ashirwad Merve, Jennifer Parker, Bethan Hoskins, Ronit Pressler, Sniya Sudhakar, Catherine DeVile, Tessa Homfray, Marios Kaliakatsos, Ponnudas (Prab) Prabhakar, Robert Robinson, Sara Margrete Bøen Keim, Imen Habibi, Alexandre Reymond, Sanjay M Sisodiya, Jane A Hurst

Hum Mol Genet. 2023 Feb 15; 32(4): 580–594. Published online 2022 Sep 6. doi: 10.1093/hmg/ddac225

PMCID:: PMC9896472

Abstract Article PDF–2.1M

Select item 96239793.

Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality

Arti T. Navare, Fred D. Mast, Jean Paul Olivier, Thierry Bertomeu, Maxwell L. Neal, Lindsay N. Carpp, Alexis Kaushansky, Jasmin Coulombe-Huntington, Mike Tyers, John D. Aitchison

J Cell Biol. 2022 Nov 7; 221(11): e202011050. Published online 2022 Oct 28. doi: 10.1083/jcb.202011050

PMCID:: PMC9623979

Abstract Article PDF–3.7M

Select item 94645924.

Structure of the nutrient-sensing hub GATOR2

Max L. Valenstein, Kacper B. Rogala, Pranav V. Lalgudi, Edward J. Brignole, Xin Gu, Robert A. Saxton, Lynne Chantranupong, Jonas Kolibius, Jan-Philipp Quast, David M. Sabatini

Nature. Author manuscript; available in PMC 2023 Jan 13.

Published in final edited form as: Nature. 2022 Jul; 607(7919): 610–616. Published online 2022 Jul 13. doi: 10.1038/s41586-022-04939-z

PMCID:: PMC9464592

Abstract Article PDF–6.9M

Select item 92626145.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 91331706.

Cryo-EM structures of the human GATOR1-Rag-Ragulator complex reveal a spatial-constraint regulated GAP mechanism

Shawn B. Egri, Christna Ouch, Hui-Ting Chou, Zhiheng Yu, Kangkang Song, Chen Xu, Kuang Shen

Mol Cell. Author manuscript; available in PMC 2023 May 19.

Published in final edited form as: Mol Cell. 2022 May 19; 82(10): 1836–1849.e5. Published online 2022 Mar 25. doi: 10.1016/j.molcel.2022.03.002

PMCID:: PMC9133170

Abstract Article PDF–2.9M

Select item 91197367.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 81650308.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 75668819.

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 746212710.

DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons

Lindsay K. Klofas, Brittany P. Short, John P. Snow, Justine Sinnaeve, Gabrielle V. Rushing, Grant Westlake, Will Weinstein, Rebecca A. Ihrie, Kevin C. Ess, Robert P. Carson

Neurobiol Dis. Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: Neurobiol Dis. 2020 Sep; 143: 104975. Published online 2020 Jun 20. doi: 10.1016/j.nbd.2020.104975

PMCID:: PMC7462127

Abstract Article PDF–2.1M

Select item 716998311.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 684258812.

Mutational inactivation of mTORC1 repressor gene DEPDC5 in human gastrointestinal stromal tumors

Yuzhi Pang, Feifei Xie, Hui Cao, Chunmeng Wang, Meijun Zhu, Xiaoxiao Liu, Xiaojing Lu, Tao Huang, Yanying Shen, Ke Li, Xiaona Jia, Zhang Li, Xufen Zheng, Simin Wang, Yi He, Linhui Wang, Jonathan A. Fletcher, Yuexiang Wang

Proc Natl Acad Sci U S A. 2019 Nov 5; 116(45): 22746–22753. Published online 2019 Oct 21. doi: 10.1073/pnas.1914542116

PMCID:: PMC6842588

Abstract Article PDF–2.0M

Select item 673628813.

Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice

Christopher J Yuskaitis, Leigh-Ana Rossitto, Sarika Gurnani, Elizabeth Bainbridge, Annapurna Poduri, Mustafa Sahin

Hum Mol Genet. 2019 Sep 1; 28(17): 2952–2964. Published online 2019 May 17. doi: 10.1093/hmg/ddz123

PMCID:: PMC6736288

Abstract Article PDF–2.3M

Select item 636380514.

A variant in the MICA gene is associated with liver fibrosis progression in chronic hepatitis C through TGF-β1 dependent mechanisms

Rasha El Sharkawy, Ali Bayoumi, Mayada Metwally, Alessandra Mangia, Thomas Berg, Manuel Romero-Gomez, Maria Lorena Abate, William L. Irving, David Sheridan, Gregory J. Dore, Ulrich Spengler, Pietro Lampertico, Elisabetta Bugianesi, Martin Weltman, Lindsay Mollison, Wendy Cheng, Stephen Riordan, Rosanna Santoro, Rocío Gallego-Durán, Janett Fischer, Jacob Nattermann, Roberta D’Ambrosio, Duncan McLeod, Elizabeth Powell, Olivier latchoumanin, Khaled Thabet, Mustafa A. M. Najim, Mark W. Douglas, Christopher Liddle, Liang Qiao, Jacob George, Mohammed Eslam, International Liver Disease Genetics Consortium (ILDGC)

Sci Rep. 2019; 9: 1439. Published online 2019 Feb 5. doi: 10.1038/s41598-018-35736-2

PMCID:: PMC6363805

Abstract Article PDF–1.1M

Select item 629249515.

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaetan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Edouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand-Sorbets, Georg Dorfmüller, Sanjay Sisodiya, Simona Balestrini, Natasha Schoeler, Laura Hernandez-Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, Charles Deckers, Bianca Berghuis, Ilse Wegner, Erik Niks, Floor E. Jansen, Kees Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, Marie-Line Jacquemont, Caroline Nava, Eric Leguern, Sophie Julia, Antonio Gambardella, Giuseppe d’Orsi, Giovanni Crichiutti, Laurence Faivre, Veronique Darmency, Barbora Benova, Pavel Krsek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R Nordli, Jr, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartolomei, Anne Fabienne Lepine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard-Mousnier, Julien Thevenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller-Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostasy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

Genet Med. 2019; 21(2): 398–408. Published online 2018 Aug 10. doi: 10.1038/s41436-018-0060-2

Correction in:: Genet Med. 2019; 21(7): 1671.

Correction in:: Genet Med. 2019; 21(8): 1896.

PMCID:: PMC6292495

Abstract Article PDF–1.4M

Select item 616668216.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 608140017.

TSC1 and DEPDC5 regulate HIV-1 latency through the mTOR signaling pathway

Shan Jin, Qibin Liao, Jian Chen, Linxia Zhang, Qian He, Huanzhang Zhu, Xiaoyan Zhang, Jianqing Xu

Emerg Microbes Infect. 2018; 7: 138. Published online 2018 Aug 8. doi: 10.1038/s41426-018-0139-5

PMCID:: PMC6081400

Abstract Article PDF–1.1M

Select item 598333518.

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Théo Ribierre, Charlotte Deleuze, Alexandre Bacq, Sara Baldassari, Elise Marsan, Mathilde Chipaux, Giuseppe Muraca, Delphine Roussel, Vincent Navarro, Eric Leguern, Richard Miles, Stéphanie Baulac

J Clin Invest. 2018 Jun 1; 128(6): 2452–2458. Published online 2018 Apr 30. doi: 10.1172/JCI99384

PMCID:: PMC5983335

Abstract Article PDF–6.3M

Select item 597596419.

Architecture of the human GATOR1 and GATOR1-Rag complexes

Kuang Shen, Rick K. Huang, Edward J. Brignole, Kendall J. Condon, Max L. Valenstein, Lynne Chantranupong, Aimaiti Bomaliyamu, Abigail Choe, Chuan Hong, Zhiheng Yu, David M. Sabatini

Nature. Author manuscript; available in PMC 2018 Oct 5.

Published in final edited form as: Nature. 2018 Apr 5; 556(7699): 64–69. Published online 2018 Mar 28. doi: 10.1038/nature26158

PMCID:: PMC5975964

Abstract Article PDF–2.4M

Select item 589620220.

Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability

Dominika Kwasna, Syed Arif Abdul Rehman, Jayaprakash Natarajan, Stephen Matthews, Ross Madden, Virginia De Cesare, Simone Weidlich, Satpal Virdee, Ivan Ahel, Ian Gibbs-Seymour, Yogesh Kulathu

Mol Cell. 2018 Apr 5; 70(1): 150–164.e6. doi: 10.1016/j.molcel.2018.02.023