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Items: 1 to 20 of 27

1.
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene
Cecilia Cattelani, Ingrid Battistella, Francesca Di Leva, Giulia Fioravanti, Francesco Benedicenti, Franco Stanzial, Christine Schwienbacher, Francesca Fanelli, Peter P. Pramstaller, Andrew A. Hicks, Luciano Conti, Corrado Corti
Int J Mol Sci. 2022 Nov; 23(21): 13095. Published online 2022 Oct 28. doi: 10.3390/ijms232113095
PMCID:
PMC9654488
AbstractArticlePDF–2.3M
2.
The SZT2 Interactome Unravels New Functions of the KICSTOR Complex
Cecilia Cattelani, Dominik Lesiak, Gudrun Liebscher, Isabel I. Singer, Taras Stasyk, Moritz H. Wallnöfer, Alexander M. Heberle, Corrado Corti, Michael W. Hess, Kristian Pfaller, Marcel Kwiatkowski, Peter P. Pramstaller, Andrew A. Hicks, Kathrin Thedieck, Thomas Müller, Lukas A. Huber, Mariana Eca Guimaraes de Araujo
Cells. 2021 Oct; 10(10): 2711. Published online 2021 Oct 9. doi: 10.3390/cells10102711
PMCID:
PMC8534408
AbstractArticlePDF–3.3M
3.
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, Jennifer Murphy, Guy Helman, Miriam Bloom, Sarah H. Evans, John G. Murnick, Joan Conry, Ryan J. Taft, Cas Simons, Adeline Vanderver, Laura A. Adang
Am J Med Genet A. Author manuscript; available in PMC 2021 Apr 7.
Published in final edited form as: Am J Med Genet A. 2018 Jun; 176(6): 1443–1448. Published online 2018 Apr 25. doi: 10.1002/ajmg.a.38717
PMCID:
PMC8025690
AbstractArticlePDF–263K
4.
A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant
Tarek El Halabi, Maya Dirani, Mostafa Hotait, Wassim Nasreddine, Ahmad Beydoun
Epilepsia Open. 2021 Mar; 6(1): 73–78. Published online 2021 Jan 7. doi: 10.1002/epi4.12451
PMCID:
PMC7918305
AbstractArticlePDF–674K
5.
Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
Xiaomin Sun, Xuefei Zhong, Tingsong Li
Mol Genet Genomic Med. 2019 Sep; 7(9): e926. Published online 2019 Aug 8. doi: 10.1002/mgg3.926
PMCID:
PMC6732301
AbstractArticlePDF–1.3M
6.
Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
Yuji Nakamura, Kohji Kato, Naomi Tsuchida, Naomichi Matsumoto, Yoshiyuki Takahashi, Shinji Saitoh
PLoS One. 2019; 14(8): e0221482. Published online 2019 Aug 20. doi: 10.1371/journal.pone.0221482
PMCID:
PMC6701784
AbstractArticlePDF–1.0M
7.
An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability
Michelle Falcone, Kemal O. Yariz, David B. Ross, Joseph Foster, II, Ibis Menendez, Mustafa Tekin
PLoS One. 2013; 8(12): e82810. Published online 2013 Dec 6. doi: 10.1371/journal.pone.0082810
PMCID:
PMC3855772
AbstractArticlePDF–541K
8.
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
Lina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall-Chaure, Naseebullah Kakar, Pola Smirin-Yosef, Marta Vila-Pueyo, Liora Kornreich, Holger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik-Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck
Am J Hum Genet. 2013 Sep 5; 93(3): 524–529. doi: 10.1016/j.ajhg.2013.07.005
PMCID:
PMC3769928
AbstractArticlePDF–810K
9.
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
10.
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
11.
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
12.
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
PMCID:
PMC5896202
AbstractArticle
13.
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags
Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491
PMCID:
PMC16267
AbstractArticlePDF–111K
14.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini
Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3
PMCID:
PMC9950183
AbstractArticlePDF–2.4M
15.
High-throughput analyses of hnRNP H1 dissects its multi-functional aspect
Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva
RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030
PMCID:
PMC4841607
AbstractArticlePDF–1.6M
16.
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
17.
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
AbstractArticlePDF–4.8M
18.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M
19.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
20.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M

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