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Select item 91102571.

LARS2 Regulates Apoptosis via ROS-Mediated Mitochondrial Dysfunction and Endoplasmic Reticulum Stress in Ovarian Granulosa Cells

Shujun Feng, Shan Wan, Shuangying Liu, Wei Wang, Minyue Tang, Long Bai, Yimin Zhu

Oxid Med Cell Longev. 2022; 2022: 5501346. Published online 2022 May 9. doi: 10.1155/2022/5501346

PMCID:: PMC9110257

Abstract Article PDF–3.5M

Select item 48172182.

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

Giulia Soldà, Sonia Caccia, Michela Robusto, Chiara Chiereghin, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Rosanna Asselta

J Hum Genet. Author manuscript; available in PMC 2016 Sep 22.

Published in final edited form as: J Hum Genet. 2016 Apr; 61(4): 295–300. Published online 2015 Dec 10. doi: 10.1038/jhg.2015.149

PMCID:: PMC4817218

Abstract Article PDF–1.0M

Select item 45918223.

Degenerate Connective Polypeptide 1 (CP1) Domain from Human Mitochondrial Leucyl-tRNA Synthetase

Qing Ye, Meng Wang, Zhi-Peng Fang, Zhi-Rong Ruan, Quan-Quan Ji, Xiao-Long Zhou, En-Duo Wang

J Biol Chem. 2015 Oct 2; 290(40): 24391–24402. Published online 2015 Aug 13. doi: 10.1074/jbc.M115.672824

PMCID:: PMC4591822

Abstract Article PDF–2.2M

Select item 39279544.

Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations

Hue Tran Hornig-Do, Arianna Montanari, Agata Rozanska, Helen A Tuppen, Abdulraheem A Almalki, Dyg P Abg-Kamaludin, Laura Frontali, Silvia Francisci, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers

EMBO Mol Med. 2014 Feb; 6(2): 183–193. Published online 2014 Jan 10. doi: 10.1002/emmm.201303202

PMCID:: PMC3927954

Abstract Article PDF–1.7M

Select item 28635885.

Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA^Leu(UUR) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes

Ronghua Li, Min-Xin Guan

Mol Cell Biol. 2010 May; 30(9): 2147–2154. Published online 2010 Mar 1. doi: 10.1128/MCB.01614-09

Correction in:: Mol Cell Biol. 2017 Sep 15; 37(18): e00335-17.

PMCID:: PMC2863588

Abstract Article PDF–1.5M

Select item 27899276.

Genetic association analysis of LARS2 with type 2 diabetes

E. Reiling, B. Jafar-Mohammadi, E. van ’t Riet, M. N. Weedon, J. V. van Vliet-Ostaptchouk, T. Hansen, R. Saxena, T. W. van Haeften, P. A. Arp, S. Das, G. Nijpels, M. J. Groenewoud, E. C. van Hove, A. G. Uitterlinden, J. W. A. Smit, A. D. Morris, A. S. F. Doney, C. N. A. Palmer, C. Guiducci, A. T. Hattersley, T. M. Frayling, O. Pedersen, P. E. Slagboom, D. M. Altshuler, L. Groop, J. A. Romijn, J. A. Maassen, M. H. Hofker, J. M. Dekker, M. I. McCarthy, L. M. ’t Hart

Diabetologia. 2010; 53(1): 103–110. Published online 2009 Oct 22. doi: 10.1007/s00125-009-1557-7

PMCID:: PMC2789927

Abstract Article PDF–141K

Select item 25788597.

Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA^Leu(UUR) gene

Hyejeong Park, Edgar Davidson, Michael P. King

RNA. 2008 Nov; 14(11): 2407–2416. doi: 10.1261/rna.1208808

PMCID:: PMC2578859

Abstract Article PDF–354K

Select item 92813828.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Marjo S. van der Knaap, Marianna Bugiani, Marisa I. Mendes, Lisa G. Riley, Desiree E.C. Smith, Joëlle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frederic Tran Mau-Them, Richard J. Rodenburg, Ryan J. Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S. Salomons, Fanny Mochel

Neurology. 2019 Mar 12; 92(11): e1225–e1237. doi: 10.1212/WNL.0000000000007098

Correction in:: Neurology. 2019 Nov 26; 93(22): 982.

PMCID:: PMC9281382

Abstract Article PDF–367K

Select item 60700879.

An Epigenome-Wide Association Study of Obesity-Related Traits

Klodian Dhana, Kim V E Braun, Jana Nano, Trudy Voortman, Ellen W Demerath, Weihua Guan, Myriam Fornage, Joyce B J van Meurs, Andre G Uitterlinden, Albert Hofman, Oscar H Franco, Abbas Dehghan

Am J Epidemiol. 2018 Aug; 187(8): 1662–1669. Published online 2018 May 14. doi: 10.1093/aje/kwy025

PMCID:: PMC6070087

Abstract Article PDF–210K

Select item 505917910.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Lisa G. Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, David R. Thorburn, Ryan L. Davis, Juliana Teo, Susan Arbuckle, Sandra T. Cooper, Dean R. Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M. Sue, Mark D. Fleming, John Christodoulou

JIMD Rep. 2016; 28: 49–57. Published online 2015 Nov 5. doi: 10.1007/8904_2015_515

PMCID:: PMC5059179

Abstract Article PDF–556K

Select item 361737711.

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

Sarah B. Pierce, Ksenija Gersak, Rachel Michaelson-Cohen, Tom Walsh, Ming K. Lee, Daniel Malach, Rachel E. Klevit, Mary-Claire King, Ephrat Levy-Lahad

Am J Hum Genet. 2013 Apr 4; 92(4): 614–620. doi: 10.1016/j.ajhg.2013.03.007

PMCID:: PMC3617377

Abstract Article PDF–1.1M

Select item 321032712.

Peptides from aminoacyl-tRNA synthetases can cure the defects due to mutations in mt tRNA genes

Silvia Francisci, Arianna Montanari, Cristina De Luca, Laura Frontali

Mitochondrion. 2011 Nov; 11(6): 919–923. doi: 10.1016/j.mito.2011.08.006

PMCID:: PMC3210327

Abstract Article

Select item 465716113.

PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion

Anna E. Dart, Gary M. Box, William Court, Madeline E. Gale, John P. Brown, Sarah E. Pinder, Suzanne A. Eccles, Claire M. Wells

J Cell Biol. 2015 Nov 23; 211(4): 863–879. doi: 10.1083/jcb.201501072

PMCID:: PMC4657161

Abstract Article PDF–8.1M

Select item 720220914.

Regulation of epidermal differentiation through KDF1‐mediated deubiquitination of IKKα

Yuanyuan Li, Liangfeng Tang, Jiping Yue, Xuewen Gou, Anning Lin, Scott D Weatherbee, Xiaoyang Wu

EMBO Rep. 2020 May 6; 21(5): e48566. Published online 2020 Apr 1. doi: 10.15252/embr.201948566

PMCID:: PMC7202209

Abstract Article PDF–6.2M

Select item 711512815.

Targeting RICTOR sensitizes SMAD4-negative colon cancer to irinotecan

Chen Khuan Wong, Arthur William Lambert, Sait Ozturk, Panagiotis Papageorgis, Delia Lopez, Ning Shen, Zaina Sen, Hamid Mostafavi Abdolmaleky, Balázs Győrffy, Hui Feng, Sam Thiagalingam

Mol Cancer Res. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Mol Cancer Res. 2020 Mar; 18(3): 414–423. Published online 2020 Jan 13. doi: 10.1158/1541-7786.MCR-19-0525

PMCID:: PMC7115128

Abstract Article PDF–1.6M

Select item 662002816.

Mitochondrial ClpP-mediated proteolysis induces selective cancer cell lethality

Jo Ishizawa, Sarah F. Zarabi, R. Eric Davis, Ondrej Halgas, Takenobu Nii, Yulia Jitkova, Ran Zhao, Jonathan St-Germain, Lauren E. Heese, Grace Egan, Vivian R. Ruvolo, Samir H. Barghout, Yuki Nishida, Rose Hurren, Wencai Ma, Marcela Gronda, Todd Link, Keith Wong, Mark Mabanglo, Kensuke Kojima, Gautam Borthakur, Neil MacLean, John Man Chun Ma, Andrew B. Leber, Mark D. Minden, Walid Houry, Hagop Kantarjian, Martin Stogniew, Brian Raught, Emil F. Pai, Aaron D. Schimmer, Michael Andreeff

Cancer Cell. Author manuscript; available in PMC 2020 May 13.

Published in final edited form as: Cancer Cell. 2019 May 13; 35(5): 721–737.e9. Published online 2019 May 2. doi: 10.1016/j.ccell.2019.03.014

PMCID:: PMC6620028

Abstract Article PDF–2.9M

Select item 555729217.

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

Abstract Article PDF–3.4M

Select item 947546218.

ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold

Wenjing Yang, Beili Wang, Qian Yu, Te Liu, Tong Li, Tongtong Tian, Anli Jin, Lin Ding, Wei Chen, Hao Wang, Jingrong Xian, Baishen Pan, Jian Zhou, Jia Fan, Xinrong Yang, Wei Guo

Theranostics. 2022; 12(14): 6189–6206. Published online 2022 Aug 21. doi: 10.7150/thno.72134

PMCID:: PMC9475462

Abstract Article PDF–4.6M

Select item 642645519.

Mapping the genetic landscape of human cells

Max A. Horlbeck, Albert Xu, Min Wang, Neal K. Bennett, Chong Y. Park, Derek Bogdanoff, Britt Adamson, Eric D. Chow, Martin Kampmann, Tim R. Peterson, Ken Nakamura, Michael A. Fischbach, Jonathan S. Weissman, Luke A. Gilbert

Cell. Author manuscript; available in PMC 2019 Aug 9.

Published in final edited form as: Cell. 2018 Aug 9; 174(4): 953–967.e22. Published online 2018 Jul 19. doi: 10.1016/j.cell.2018.06.010

PMCID:: PMC6426455

Abstract Article PDF–3.6M

Select item 875541920.

Host E3 ligase HUWE1 attenuates the proapoptotic activity of the MERS-CoV accessory protein ORF3 by promoting its ubiquitin-dependent degradation

Yuzheng Zhou, Rong Zheng, Sixu Liu, Cyrollah Disoma, Ashuai Du, Shiqin Li, Zongpeng Chen, Zijun Dong, Yongxing Zhang, Sijia Li, Pinjia Liu, Aroona Razzaq, Xuan Chen, Yujie Liao, Siyi Tao, Yuxin Liu, Lunan Xu, Qianjun Zhang, Jian Peng, Xu Deng, Shanni Li, Taijiao Jiang, Zanxian Xia

J Biol Chem. 2022 Feb; 298(2): 101584. Published online 2022 Jan 13. doi: 10.1016/j.jbc.2022.101584

PMCID:: PMC8755419

Abstract Article PDF–3.5M

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