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Items: 1 to 20 of 44

1.
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
AbstractArticlePDF–2.1M
2.
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
AbstractArticlePDF–2.1M
3.
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
AbstractArticlePDF–2.0M
4.
DEPDC5 deficiency contributes to resistance to leucine starvation via p62 accumulation in hepatocellular carcinoma
Yuki Mizuno, Shu Shimada, Yoshimitsu Akiyama, Shuichi Watanabe, Tomomi Aida, Kosuke Ogawa, Hiroaki Ono, Yusuke Mitsunori, Daisuke Ban, Atsushi Kudo, Shigeki Arii, Shoji Yamaoka, Minoru Tanabe, Shinji Tanaka
Sci Rep. 2018; 8: 106. Published online 2018 Jan 8. doi: 10.1038/s41598-017-18323-9
PMCID:
PMC5758822
AbstractArticlePDF–2.3M
5.
Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, Eric Noé, Guillaume Achaz, Pierre Thomas, Pierre Genton, Emeline Mundwiller, Markus Wolff, Christian Marescaux, Richard Miles, Michel Baulac, Edouard Hirsch, Eric Leguern, Stéphanie Baulac
Nat Genet. Author manuscript; available in PMC 2016 Sep 2.
Published in final edited form as: Nat Genet. 2013 May; 45(5): 552–555. Published online 2013 Mar 31. doi: 10.1038/ng.2601
PMCID:
PMC5010101
AbstractArticlePDF–850K
6.
DEPDC5 variants increase fibrosis progression in Europeans with chronic hepatitis C virus infection
Maria Antonella Burza, Benedetta Maria Motta, Rosellina Margherita Mancina, Piero Pingitore, Carlo Pirazzi, Saverio Massimo Lepore, Rocco Spagnuolo, Patrizia Doldo, Cristina Russo, Veronica Lazzaro, Janett Fischer, Thomas Berg, Alessio Aghemo, Cristina Cheroni, Raffaele De Francesco, Silvia Fargion, Massimo Colombo, Christian Datz, Felix Stickel, Luca Valenti, Stefano Romeo
Hepatology. 2016 Feb; 63(2): 418–427. Published online 2015 Dec 18. doi: 10.1002/hep.28322
PMCID:
PMC4737289
AbstractArticlePDF–648K
7.
mTOR Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia
Alissa M. D'Gama, Ying Geng, Javier A. Couto, Beth Martin, Evan A. Boyle, Christopher M. LaCoursiere, Amer Hossain, Nicole E. Hatem, Brenda Barry, David J. Kwiatkowski, Harry V. Vinters, A. James Barkovich, Jay Shendure, Gary W. Mathern, Christopher A. Walsh, Annapurna Poduri
Ann Neurol. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Ann Neurol. 2015 Apr; 77(4): 720–725. Published online 2015 Feb 26. doi: 10.1002/ana.24357
PMCID:
PMC4471336
AbstractArticlePDF–568K
8.
Variations in DEPDC5 gene and its association with chronic hepatitis C virus infection in Saudi Arabia
Mashael R Al-Anazi, Sabine Matou-Nasri, Ayman A Abdo, Faisal M Sanai, Mohammed Q Khan, Ali Albenmousa, Hamad I Al-Ashgar, Nisreen Z Khalaf, Mohammed N Al-Ahdal, Ahmed A Al-Qahtani
BMC Infect Dis. 2014; 14: 632. Published online 2014 Dec 31. doi: 10.1186/s12879-014-0632-y
PMCID:
PMC4311515
AbstractArticlePDF–293K
9.
Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12
Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J. Hudson, Richard Desbiens, Georges Patry, Simon Verret, Pierre Langevin, Suha Mercho, Marie-Hélène Seni, Ingrid Scheffer, François Dubeau, Samuel F. Berkovic, Frederick Andermann, Eva Andermann, Massimo Pandolfo
Am J Hum Genet. 1999 Dec; 65(6): 1698–1710. Published online 1999 Nov 18. doi: 10.1086/302649
PMCID:
PMC1288381
AbstractArticlePDF–358K
10.
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
AbstractArticlePDF–2.3M
11.
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
AbstractArticlePDF–1.1M
12.
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
AbstractArticlePDF–1.1M
13.
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
AbstractArticlePDF–6.3M
14.
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
15.
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
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.
Polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with chronic hepatitis C-related hepatocellular carcinoma
Hoang Hai, Akihiro Tamori, Le Thi Thanh Thuy, Kanako Yoshida, Atsushi Hagihara, Etsushi Kawamura, Sawako Uchida-Kobayashi, Hiroyasu Morikawa, Masaru Enomoto, Yoshiki Murakami, Norifumi Kawada
Sci Rep. 2017; 7: 11912. Published online 2017 Sep 19. doi: 10.1038/s41598-017-10363-5
PMCID:
PMC5605683
AbstractArticlePDF–1.6M
19.
Sestrins Inhibit mTORC1 Kinase Activation Through the GATOR Complex
Anita Parmigiani, Aida Nourbakhsh, Boxiao Ding, Wei Wang, Young Chul Kim, Konstantin Akopiants, Kun-Liang Guan, Michael Karin, Andrei V. Budanov
Cell Rep. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell Rep. 2014 Nov 20; 9(4): 1281–1291. doi: 10.1016/j.celrep.2014.10.019
PMCID:
PMC4303546
AbstractArticlePDF–1.9M
20.
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
James Hughes, Ruby Dawson, Melinda Tea, Dale McAninch, Sandra Piltz, Dominique Jackson, Laura Stewart, Michael G. Ricos, Leanne M. Dibbens, Natasha L. Harvey, Paul Thomas
Sci Rep. 2017; 7: 12618. Published online 2017 Oct 3. doi: 10.1038/s41598-017-12574-2
PMCID:
PMC5626732
AbstractArticlePDF–5.1M

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