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Select item 95117281.

Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2

Liangshan Li, Jianhua Ma, Jingli Wang, Liping Dong, Shiguo Liu

Eur J Med Res. 2022; 27: 184. Published online 2022 Sep 26. doi: 10.1186/s40001-022-00808-7

PMCID:: PMC9511728

Abstract Article PDF–1.3M

Select item 79404792.

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D. Metodiev, Benedetta Ruzzenente

Eur J Hum Genet. 2021 Mar; 29(3): 533–538. Published online 2020 Nov 9. doi: 10.1038/s41431-020-00757-x

PMCID:: PMC7940479

Abstract Article PDF–954K

Select item 75405143.

Breaking a single hydrogen bond in the mitochondrial tRNA^Phe‐PheRS complex leads to phenotypic pleiotropy of human disease

Moshe Peretz, Dmitry Tworowski, Ekaterine Kartvelishvili, John Livingston, Zofia Chrzanowska‐Lightowlers, Mark Safro

FEBS J. 2020 Sep; 287(17): 3814–3826. Published online 2020 Mar 18. doi: 10.1111/febs.15268

PMCID:: PMC7540514

Abstract Article PDF–5.9M

Select item 57341834.

New insights into the phenotype of FARS2 deficiency

Elise Vantroys, Austin Larson, Marisa Friederich, Kaz Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boel De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster

Mol Genet Metab. 2017 Dec; 122(4): 172–181. doi: 10.1016/j.ymgme.2017.10.004

PMCID:: PMC5734183

Abstract Article

Select item 55215485.

Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2

Ekaterine Kartvelishvili, Dmitry Tworowski, Hilary Vernon, Nina Moor, Jing Wang, Lee‐Jun Wong, Zofia Chrzanowska‐Lightowlers, Mark Safro

Protein Sci. 2017 Aug; 26(8): 1505–1516. Published online 2017 May 3. doi: 10.1002/pro.3176

PMCID:: PMC5521548

Abstract Article PDF–3.0M

Select item 27001566.

Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine

Liron Klipcan, Nina Moor, Naama Kessler, Mark G. Safro

Proc Natl Acad Sci U S A. 2009 Jul 7; 106(27): 11045–11048. Published online 2009 Jun 22. doi: 10.1073/pnas.0905212106

PMCID:: PMC2700156

Abstract Article PDF–831K

Select item 23763067.

Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase

Inna Levin, Naama Kessler, Nina Moor, Liron Klipcan, Emine Koc, Paul Templeton, Linda Spremulli, Mark Safro

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007 Sep 1; 63(Pt 9): 761–764. Published online 2007 Aug 25. doi: 10.1107/S1744309107038651

PMCID:: PMC2376306

Abstract Article PDF–132K

Select item 110178368.

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System

Bowen Li, Fangfang Liu, Xihui Chen, Tangdong Chen, Juan Zhang, Yifeng Liu, Yan Yao, Weihong Hu, Mengjie Zhang, Bo Wang, Liwen Liu, Kun Chen, Yuanming Wu

Circulation. 2024 Apr 16; 149(16): 1268–1284. Published online 2024 Feb 16. doi: 10.1161/CIRCULATIONAHA.123.064489

PMCID:: PMC11017836

Abstract Article PDF–4.6M

Select item 41062359.

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Eleanor Wheeler, Ni Huang, Elena Bochukova, Julia M. Keogh, Sarah Lindsay, Sumedha Garg, Elana Henning, Hannah Blackburn, Ruth J.F. Loos, Nick J Wareham, Stephen O’Rahilly, Matthew E. Hurles, Inês Barroso, I. Sadaf Farooqi

Nat Genet. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: Nat Genet. 2013 May; 45(5): 513–517. Published online 2013 Apr 7. doi: 10.1038/ng.2607

PMCID:: PMC4106235

Article PDF–756K

Select item 318854410.

Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry

Amidou N'Diaye, Gary K. Chen, Cameron D. Palmer, Bing Ge, Bamidele Tayo, Rasika A. Mathias, Jingzhong Ding, Michael A. Nalls, Adebowale Adeyemo, Véronique Adoue, Christine B. Ambrosone, Larry Atwood, Elisa V. Bandera, Lewis C. Becker, Sonja I. Berndt, Leslie Bernstein, William J. Blot, Eric Boerwinkle, Angela Britton, Graham Casey, Stephen J. Chanock, Ellen Demerath, Sandra L. Deming, W. Ryan Diver, Caroline Fox, Tamara B. Harris, Dena G. Hernandez, Jennifer J. Hu, Sue A. Ingles, Esther M. John, Craig Johnson, Brendan Keating, Rick A. Kittles, Laurence N. Kolonel, Stephen B. Kritchevsky, Loic Le Marchand, Kurt Lohman, Jiankang Liu, Robert C. Millikan, Adam Murphy, Solomon Musani, Christine Neslund-Dudas, Kari E. North, Sarah Nyante, Adesola Ogunniyi, Elaine A. Ostrander, George Papanicolaou, Sanjay Patel, Curtis A. Pettaway, Michael F. Press, Susan Redline, Jorge L. Rodriguez-Gil, Charles Rotimi, Benjamin A. Rybicki, Babatunde Salako, Pamela J. Schreiner, Lisa B. Signorello, Andrew B. Singleton, Janet L. Stanford, Alex H. Stram, Daniel O. Stram, Sara S. Strom, Bhoom Suktitipat, Michael J. Thun, John S. Witte, Lisa R. Yanek, Regina G. Ziegler, Wei Zheng, Xiaofeng Zhu, Joseph M. Zmuda, Alan B. Zonderman, Michele K. Evans, Yongmei Liu, Diane M. Becker, Richard S. Cooper, Tomi Pastinen, Brian E. Henderson, Joel N. Hirschhorn, Guillaume Lettre, Christopher A. Haiman

PLoS Genet. 2011 Oct; 7(10): e1002298. Published online 2011 Oct 6. doi: 10.1371/journal.pgen.1002298

Correction in:: PLoS Genet. 2011 Nov; 7(11): 10.1371/annotation/58c67154-3f10-4155-9085-dcd6e3689008.

PMCID:: PMC3188544

Abstract Article PDF–486K

Select item 117742711.

Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways

Chen Zhao, Carilee Denison, Jon M. Huibregtse, Steven Gygi, Robert M. Krug

Proc Natl Acad Sci U S A. 2005 Jul 19; 102(29): 10200–10205. Published online 2005 Jul 11. doi: 10.1073/pnas.0504754102

PMCID:: PMC1177427

Abstract Article PDF–470K

Select item 284527112.

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

Ricarda Richter, Joanna Rorbach, Aleksandra Pajak, Paul M Smith, Hans J Wessels, Martijn A Huynen, Jan A Smeitink, Robert N Lightowlers, Zofia M Chrzanowska-Lightowlers

EMBO J. 2010 Mar 17; 29(6): 1116–1125. Published online 2010 Feb 25. doi: 10.1038/emboj.2010.14

PMCID:: PMC2845271

Abstract Article PDF–1.3M

Select item 499245613.

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033

PMCID:: PMC4992456

Abstract Article PDF–1.7M

Select item 340884714.

Interpreting cancer genomes using systematic host perturbations by tumour virus proteins

Orit Rozenblatt-Rosen, Rahul C. Deo, Megha Padi, Guillaume Adelmant, Michael A. Calderwood, Thomas Rolland, Miranda Grace, Amélie Dricot, Manor Askenazi, Maria Tavares, Sam Pevzner, Fieda Abderazzaq, Danielle Byrdsong, Anne-Ruxandra Carvunis, Alyce A. Chen, Jingwei Cheng, Mick Correll, Melissa Duarte, Changyu Fan, Mariet C. Feltkamp, Scott B. Ficarro, Rachel Franchi, Brijesh K. Garg, Natali Gulbahce, Tong Hao, Amy M. Holthaus, Robert James, Anna Korkhin, Larisa Litovchick, Jessica C. Mar, Theodore R. Pak, Sabrina Rabello, Renee Rubio, Yun Shen, Saurav Singh, Jennifer M. Spangle, Murat Tasan, Shelly Wanamaker, James T. Webber, Jennifer Roecklein-Canfield, Eric Johannsen, Albert-László Barabási, Rameen Beroukhim, Elliott Kieff, Michael E. Cusick, David E. Hill, Karl Münger, Jarrod A. Marto, John Quackenbush, Frederick P. Roth, James A. DeCaprio, Marc Vidal

Nature. Author manuscript; available in PMC 2013 Jan 26.

Published in final edited form as: Nature. 2012 Jul 26; 487(7408): 491–495. doi: 10.1038/nature11288

PMCID:: PMC3408847

Abstract Article PDF–937K

Select item 552513315.

Prohibitin 1 regulates tumor cell apoptosis via the interaction with X-linked inhibitor of apoptosis protein

Yingjie Xu, Wen Yang, Jinjun Shi, Bruce R. Zetter

J Mol Cell Biol. 2016 Jun; 8(3): 282–285. Published online 2016 Jul 7. doi: 10.1093/jmcb/mjw018

PMCID:: PMC5525133

Article PDF–1.9M

Select item 294347616.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 271642217.

Defining the Human Deubiquitinating Enzyme Interaction Landscape

Mathew E. Sowa, Eric J. Bennett, Steven P. Gygi, J. Wade Harper

Cell. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Cell. 2009 Jul 23; 138(2): 389–403. Published online 2009 Jul 16. doi: 10.1016/j.cell.2009.04.042

PMCID:: PMC2716422

Abstract Article PDF–6.1M

Select item 674264618.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 300858619.

Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics

Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper

Cell. Author manuscript; available in PMC 2011 Dec 10.

Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017

PMCID:: PMC3008586

Abstract Article PDF–3.0M

Select item 874895820.

EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation

Liyuan Wang, Chan Chen, Zemin Song, Honghong Wang, Minghui Ye, Donghai Wang, Wenqian Kang, Hudan Liu, Guoliang Qing

Nat Commun. 2022; 13: 12. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27609-6

PMCID:: PMC8748958

Abstract Article PDF–3.0M

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