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Select item 106463191.

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Katherine Lord, Diva D. De Leon, Nadia Merchant, Rebecca Ganetzky

Front Endocrinol (Lausanne) 2023; 14: 1268135. Published online 2023 Nov 1. doi: 10.3389/fendo.2023.1268135

PMCID:: PMC10646319

Abstract Article PDF–641K

Select item 92792852.

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery

Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili

Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z

PMCID:: PMC9279285

Abstract Article PDF–2.5M

Select item 91063033.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 81650304.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 73890755.

线粒体DNA耗竭综合征1例临床特点和DGUOK基因突变分析

邓梅, 林伟霞, 郭丽, 张占会, 宋元宗

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jun 15; 18(6): 545–550. Chinese. doi: 10.7499/j.issn.1008-8830.2016.06.015

PMCID:: PMC7389075

Abstract Article PDF–2.5M

Select item 68318516.

Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis

Mohamed Taha Moutaoufik, Ramy Malty, Shahreen Amin, Qingzhou Zhang, Sadhna Phanse, Alla Gagarinova, Mara Zilocchi, Larissa Hoell, Zoran Minic, Maria Gagarinova, Hiroyuki Aoki, Jocelyn Stockwell, Matthew Jessulat, Florian Goebels, Kirsten Broderick, Nichollas E. Scott, James Vlasblom, Gabriel Musso, Bhanu Prasad, Eleonora Lamantea, Barbara Garavaglia, Alex Rajput, Kei Murayama, Yasushi Okazaki, Leonard J. Foster, Gary D. Bader, Francisco S. Cayabyab, Mohan Babu

iScience. 2019 Sep 27; 19: 1114–1132. Published online 2019 Sep 4. doi: 10.1016/j.isci.2019.08.057

PMCID:: PMC6831851

Abstract Article PDF–9.8M

Select item 55316117.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 50980418.

TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions

Charles A. S. Banks, Gina Boanca, Zachary T. Lee, Cassandra G. Eubanks, Gaye L. Hattem, Allison Peak, Lauren E. Weems, Juliana J. Conkright, Laurence Florens, Michael P. Washburn

Mol Cell Proteomics. 2016 Nov; 15(11): 3435–3449. Published online 2016 Sep 8. doi: 10.1074/mcp.M116.060509

PMCID:: PMC5098041

Abstract Article PDF–2.1M

Select item 50470589.

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

Brian Bennett, Daniel Helbling, Hui Meng, Jason Jarzembowski, Aron M. Geurts, Marisa W. Friederich, Johan L. K. Van Hove, Michael W. Lawlor, David P. Dimmock

Free Radic Biol Med. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Free Radic Biol Med. 2016 Mar; 92: 141–151. Published online 2016 Jan 8. doi: 10.1016/j.freeradbiomed.2016.01.001

PMCID:: PMC5047058

Abstract Article PDF–1.2M

Select item 488219010.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Abstract Article PDF–1.9M

Select item 487487211.

Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension

Sílvia Vilarinho, Sinan Sari, Güldal Yilmaz, Amy L. Stiegler, Titus J. Boggon, Dhanpat Jain, Gulen Akyol, Buket Dalgic, Murat Günel, Richard P. Lifton

Hepatology. Author manuscript; available in PMC 2017 Jun 1.

Published in final edited form as: Hepatology. 2016 Jun; 63(6): 1977–1986. Published online 2016 Mar 31. doi: 10.1002/hep.28499

PMCID:: PMC4874872

Abstract Article PDF–822K

Select item 461721112.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 406471813.

Charting the Landscape of Tandem BRCT Domain-Mediated Protein Interactions

Nicholas T. Woods, Rafael D. Mesquita, Michael Sweet, Marcelo A. Carvalho, Xueli Li, Yun Liu, Huey Nguyen, C. Eric Thomas, Edwin S. Iversen, Jr., Sylvia Marsillac, Rachel Karchin, John Koomen, Alvaro N.A. Monteiro

Sci Signal. Author manuscript; available in PMC 2014 Jun 20.

Published in final edited form as: Sci Signal. 2012; 5(242): rs6. Published online 2012 Sep 18. doi: 10.1126/scisignal.2002255

PMCID:: PMC4064718

Abstract Article PDF–2.1M

Select item 354247014.

Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians

Wanling Yang, Huayang Tang, Yan Zhang, Xianfa Tang, Jing Zhang, Liangdan Sun, Jing Yang, Yong Cui, Lu Zhang, Nattiya Hirankarn, Hui Cheng, Hai-Feng Pan, Jinping Gao, Tsz Leung Lee, Yujun Sheng, Chak Sing Lau, Yang Li, Tak Mao Chan, Xianyong Yin, Dingge Ying, Qianjin Lu, Alexander Moon Ho Leung, Xianbo Zuo, Xiang Chen, Kwok Lung Tong, Fusheng Zhou, Qingchun Diao, Niko Kei Chiu Tse, Hongfu Xie, Chi Chiu Mok, Fei Hao, Sik Nin Wong, Bingjun Shi, Ka Wing Lee, Yan Hui, Marco Hok Kung Ho, Bo Liang, Pamela Pui Wah Lee, Hongzhou Cui, Qing Guo, Brian Hon-Yin Chung, Xiongming Pu, Qiji Liu, Xiaoguang Zhang, Change Zhang, Chun Yin Chong, Hong Fang, Raymond Woon Sing Wong, Yonghu Sun, Mo Yin Mok, Xiang-Pei Li, Yingyos Avihingsanon, Zhifang Zhai, Pornpimol Rianthavorn, Thavatchai Deekajorndej, Kanya Suphapeetiporn, Fei Gao, Vorasuk Shotelersuk, Xiaojing Kang, Shirley King Yee Ying, Lijuan Zhang, Wilfred Hing Sang Wong, Dingxian Zhu, Samuel Ka Shun Fung, Fanqin Zeng, Wai Ming Lai, Chun-Ming Wong, Irene Oi Lin Ng, Maria-Mercè Garcia-Barceló, Stacey S. Cherny, Nan Shen, Paul Kwong-Hang Tam, Pak Chung Sham, Dong-Qing Ye, Sen Yang, Xuejun Zhang, Yu Lung Lau

Am J Hum Genet. 2013 Jan 10; 92(1): 41–51. doi: 10.1016/j.ajhg.2012.11.018

PMCID:: PMC3542470

Abstract Article PDF–1.1M

Select item 350197515.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Dario Ronchi, Caterina Garone, Andreina Bordoni, Purificacion Gutierrez Rios, Sarah E. Calvo, Michela Ripolone, Michela Ranieri, Mafalda Rizzuti, Luisa Villa, Francesca Magri, Stefania Corti, Nereo Bresolin, Vamsi K. Mootha, Maurizio Moggio, Salvatore DiMauro, Giacomo P. Comi, Monica Sciacco

Brain. 2012 Nov; 135(11): 3404–3415. Published online 2012 Oct 4. doi: 10.1093/brain/aws258

PMCID:: PMC3501975

Abstract Article PDF–979K

Select item 326170816.

Toward an understanding of the protein interaction network of the human liver

Jian Wang, Keke Huo, Lixin Ma, Liujun Tang, Dong Li, Xiaobi Huang, Yanzhi Yuan, Chunhua Li, Wei Wang, Wei Guan, Hui Chen, Chaozhi Jin, Junchen Wei, Wanqiao Zhang, Yongsheng Yang, Qiongming Liu, Ying Zhou, Cuili Zhang, Zhihao Wu, Wangxiang Xu, Ying Zhang, Tao Liu, Donghui Yu, Yaping Zhang, Liang Chen, Dewu Zhu, Xing Zhong, Lixin Kang, Xiang Gan, Xiaolan Yu, Qi Ma, Jing Yan, Li Zhou, Zhongyang Liu, Yunping Zhu, Tao Zhou, Fuchu He, Xiaoming Yang

Mol Syst Biol. 2011; 7: 536. Published online 2011 Oct 11. doi: 10.1038/msb.2011.67

Correction in:: Mol Syst Biol. 2017 Dec; 13(12): 965.

PMCID:: PMC3261708

Abstract Article PDF–2.0M

Select item 320295917.

Genome-Wide Association Scan for Survival on Dialysis in African-Americans with Type 2 Diabetes

Mariana Murea, Lingyi Lu, Lijun Ma, Pamela J. Hicks, Jasmin Divers, Caitrin W. McDonough, Carl D. Langefeld, Donald W. Bowden, Barry I. Freedman

Am J Nephrol. 2011 Jun; 33(6): 502–509. Published online 2011 May 5. doi: 10.1159/000327985

PMCID:: PMC3202959

Abstract Article PDF–425K

Select item 319082618.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

Select item 317805919.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 302668420.

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Magdalena Pajdowska, Piotr Socha, Jolanta Sykut-Cegielska, Grzegorz Węgrzyn

J Appl Genet. 2011; 52(1): 61–66. Published online 2010 Nov 16. doi: 10.1007/s13353-010-0008-y

PMCID:: PMC3026684

Abstract Article PDF–142K

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