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Items: 1 to 20 of 39

1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
A Genome-Wide Screen for Regulators of TORC1 in Response to Amino Acid Starvation Reveals a Conserved Npr2/3 Complex
Taavi K. Neklesa, Ronald W. Davis
PLoS Genet. 2009 Jun; 5(6): e1000515. Published online 2009 Jun 12. doi: 10.1371/journal.pgen.1000515
PMCID:
PMC2686269
AbstractArticlePDF–1.1M
12.
Genetic determinants of haemolysis in sickle cell anaemia
Jacqueline N. Milton, Helen Rooks, Emma Drasar, Elizabeth L. McCabe, Clinton T. Baldwin, Efi Melista, Victor R. Gordeuk, Mehdi Nouraie, Gregory R. Kato, Caterina Minniti, James Taylor, Andrew Campbell, Lori Luchtman-Jones, Sohail Rana, Oswaldo Castro, Yingze Zhang, Swee Lay Thein, Paola Sebastiani, Mark T. Gladwin, for the Walk-PHAAST Investigators, Martin H. Steinberg
Br J Haematol. Author manuscript; available in PMC 2014 Aug 12.
Published in final edited form as: Br J Haematol. 2013 Apr; 161(2): 270–278. Published online 2013 Feb 14. doi: 10.1111/bjh.12245
PMCID:
PMC4129543
AbstractArticlePDF–1.0M
13.
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
14.
Skp2-mediated RagA ubiquitination elicits a negative feedback to prevent amino acid-dependent mTORC1 hyperactivation by recruiting GATOR1
Guoxiang Jin, Szu-Wei Lee, Xian Zhang, Zhen Cai, Yuan Gao, Ping-Chieh Chou, Abdol Hossein Rezaeian, Fei Han, Chi-Yun Wang, Juo-Chin Yao, Zhaohui Gong, Chia-Hsin Chan, Shih-Hsin Tu, Chih-Hsiung Wu, Dos D. Sarbassov, Yuan-Soon Ho, Hui-Kuan Lin
Mol Cell. Author manuscript; available in PMC 2016 Jun 18.
Published in final edited form as: Mol Cell. 2015 Jun 18; 58(6): 989–1000. Published online 2015 Jun 4. doi: 10.1016/j.molcel.2015.05.010
PMCID:
PMC4476372
AbstractArticlePDF–1.4M
15.
The Sestrins interact with GATOR2 to negatively regulate the amino acid sensing pathway upstream of mTORC1
Lynne Chantranupong, Rachel L. Wolfson, Jose M. Orozco, Robert A. Saxton, Sonia M. Scaria, Liron Bar-Peled, Eric Spooner, Marta Isasa, Steven P. Gygi, David M. Sabatini
Cell Rep. Author manuscript; available in PMC 2014 Nov 7.
Published in final edited form as: Cell Rep. 2014 Oct 9; 9(1): 1–8. Published online 2014 Sep 25. doi: 10.1016/j.celrep.2014.09.014
PMCID:
PMC4223866
AbstractArticlePDF–616K
16.
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
17.
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network
Zhao Chen, Hua Tang, Rehan Qayyum, Ursula M. Schick, Michael A. Nalls, Robert Handsaker, Jin Li, Yingchang Lu, Lisa R. Yanek, Brendan Keating, Yan Meng, Frank J.A. van Rooij, Yukinori Okada, Michiaki Kubo, Laura Rasmussen-Torvik, Margaux F. Keller, Leslie Lange, Michele Evans, Erwin P. Bottinger, Michael D. Linderman, Douglas M. Ruderfer, Hakon Hakonarson, George Papanicolaou, Alan B. Zonderman, Omri Gottesman, BioBank Japan Project, CHARGE Consortium, Cynthia Thomson, Elad Ziv, Andrew B. Singleton, Ruth J.F. Loos, Patrick M.A. Sleiman, Santhi Ganesh, Steven McCarroll, Diane M. Becker, James G. Wilson, Guillaume Lettre, Alexander P. Reiner
Hum Mol Genet. 2013 Jun 15; 22(12): 2529–2538. Published online 2013 Feb 26. doi: 10.1093/hmg/ddt087
PMCID:
PMC3658166
AbstractArticlePDF–314K
18.
A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1
Liron Bar-Peled, Lynne Chantranupong, Andrew D. Cherniack, Walter W. Chen, Kathleen A. Ottina, Brian C. Grabiner, Eric D. Spear, Scott L. Carter, Matthew Meyerson, David M. Sabatini
Science. Author manuscript; available in PMC 2013 Jul 31.
Published in final edited form as: Science. 2013 May 31; 340(6136): 1100–1106. doi: 10.1126/science.1232044
PMCID:
PMC3728654
AbstractArticlePDF–2.5M
19.
KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1
Rachel L. Wolfson, Lynne Chantranupong, Gregory A. Wyant, Xin Gu, Jose M. Orozco, Kuang Shen, Kendall J. Condon, Sabrina Petri, Jibril Kedir, Sonia M. Scaria, Monther Abu-Remaileh, Wayne N. Frankel, David M. Sabatini
Nature. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: Nature. 2017 Mar 16; 543(7645): 438–442. Published online 2017 Feb 15. doi: 10.1038/nature21423
PMCID:
PMC5360989
AbstractArticlePDF–1.9M
20.
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children
Jin Li, Joseph T. Glessner, Haitao Zhang, Cuiping Hou, Zhi Wei, Jonathan P. Bradfield, Frank D. Mentch, Yiran Guo, Cecilia Kim, Qianghua Xia, Rosetta M. Chiavacci, Kelly A. Thomas, Haijun Qiu, Struan F.A. Grant, Susan L. Furth, Hakon Hakonarson, Patrick M.A. Sleiman
Hum Mol Genet. 2013 Apr 1; 22(7): 1457–1464. Published online 2012 Dec 20. doi: 10.1093/hmg/dds534
PMCID:
PMC3657475
AbstractArticlePDF–147K

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