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Items: 1 to 20 of 39

1.
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors
Anita Waltho, Oliver Popp, Christopher Lenz, Lukas Pluska, Mahil Lambert, Volker Dötsch, Philipp Mertins, Thomas Sommer
Life Sci Alliance. 2024 Aug; 7(8): e202402740. Published online 2024 May 21. doi: 10.26508/lsa.202402740
PMCID:
PMC11109483
AbstractArticlePDF–2.9M
2.
Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review
Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Ruan
Epilepsia Open. 2024 Feb; 9(1): 33–40. Published online 2023 Nov 28. doi: 10.1002/epi4.12856
PMCID:
PMC10839296
AbstractArticlePDF–2.0M
3.
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review
Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano
Epilepsia Open. 2023 Dec; 8(4): 1314–1330. Published online 2023 Sep 1. doi: 10.1002/epi4.12798
PMCID:
PMC10690669
AbstractArticlePDF–2.9M
4.
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
AbstractArticlePDF–1.5M
5.
The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant
Yue Wang, Peimin Yu, Guoxing Zhu, Xunyi Wu, Ding Ding, Zhen Hong
PLoS One. 2023; 18(4): e0284924. Published online 2023 Apr 26. doi: 10.1371/journal.pone.0284924
PMCID:
PMC10132533
AbstractArticlePDF–1.3M
6.
Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy
Hongwei Zhang, Jie Deng, Xiaohui Wang, Chunhong Chen, Shuhua Chen, Lifang Dai, Fang Fang
Front Neurol. 2023; 14: 1113747. Published online 2023 Mar 2. doi: 10.3389/fneur.2023.1113747
PMCID:
PMC10018541
AbstractArticlePDF–969K
7.
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
AbstractArticlePDF–3.7M
8.
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
AbstractArticlePDF–6.9M
9.
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
AbstractArticlePDF–3.6M
10.
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
AbstractArticlePDF–2.9M
11.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
12.
A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci
Youzhi Li, Xu Zhao, Shanshan Wang, Ke Xu, Xin Zhao, Shanshan Huang, Suiqiang Zhu
Front Genet. 2021; 12: 766354. Published online 2021 Nov 12. doi: 10.3389/fgene.2021.766354
PMCID:
PMC8633433
AbstractArticlePDF–1.4M
13.
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
AbstractArticlePDF–2.2M
14.
Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer
R. Vatapalli, V. Sagar, Y. Rodriguez, J. C. Zhao, K. Unno, S. Pamarthy, B. Lysy, J. Anker, H. Han, Y. A. Yoo, M. Truica, Z. R. Chalmers, F. Giles, J. Yu, D. Chakravarti, B. Carneiro, S. A. Abdulkadir
Nat Commun. 2020; 11: 4153. Published online 2020 Aug 19. doi: 10.1038/s41467-020-18013-7
PMCID:
PMC7438336
AbstractArticlePDF–2.4M
15.
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum, Swaroop Aradhya
Epilepsia Open. 2019 Sep; 4(3): 397–408. Published online 2019 Jul 1. doi: 10.1002/epi4.12348
PMCID:
PMC6698688
AbstractArticlePDF–725K
16.
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
AbstractArticlePDF–1.4M
17.
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
AbstractArticlePDF–2.4M
18.
RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination
Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski
BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9
PMCID:
PMC5678581
AbstractArticlePDF–3.2M
19.
SZT2 Dictates GATOR Control of mTORC1 Signaling
Min Peng, Na Yin, Ming O. Li
Nature. Author manuscript; available in PMC 2017 Aug 24.
Published in final edited form as: Nature. 2017 Mar 16; 543(7645): 433–437. Published online 2017 Feb 15. doi: 10.1038/nature21378
Correction in:
Nature. 2018 May 16
PMCID:
PMC5570594
AbstractArticlePDF–2.1M
20.
Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions
Kyuho Han, Edwin E. Jeng, Gaelen T. Hess, David W. Morgens, Amy Li, Michael C. Bassik
Nat Biotechnol. Author manuscript; available in PMC 2017 Sep 20.
Published in final edited form as: Nat Biotechnol. 2017 May; 35(5): 463–474. Published online 2017 Mar 20. doi: 10.1038/nbt.3834
PMCID:
PMC5557292
AbstractArticlePDF–3.4M

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