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Select item 100425311.

Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism

Agustin Leonardo Lujan, Ombretta Foresti, Conor Sugden, Nathalie Brouwers, Alex Mateo Farre, Alessio Vignoli, Mahshid Azamian, Alicia Turner, Jose Wojnacki, Vivek Malhotra

eLife. 2023; 12: e85345. Published online 2023 Mar 24. doi: 10.7554/eLife.85345

PMCID:: PMC10042531

Article PDF–12M

Select item 88664662.

Mitochondrial dysfunction associated with TANGO2 deficiency

Paige Heiman, Al-Walid Mohsen, Anuradha Karunanidhi, Claudette St Croix, Simon Watkins, Erik Koppes, Richard Haas, Jerry Vockley, Lina Ghaloul-Gonzalez

Sci Rep. 2022; 12: 3045. Published online 2022 Feb 23. doi: 10.1038/s41598-022-07076-9

PMCID:: PMC8866466

Article PDF–5.0M

Select item 70789143.

Clinical presentation and proteomic signature of patients with TANGO2 mutations

Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt, Gina O'Grady, Leigh Waddell, Frances Evesson, Sandra B. T. Cooper, Christian Turner, Jennifer Duff, Ana Topf, Delia Yubero, Cristina Jou, Andrés Nascimento, Carlos Ortez, Angels García‐Cazorla, Claudia Gross, Maria O'Callaghan, Saikat Santra, Maryanne A. Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Majumdar Anirban, Germaine Pierre, Daniel McArthur, Kyle Thompson, Placido Navas, Antonia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Georgia Sarquella, Hanns Lochmüller, Cecilia Jiménez‐Mallebrera, Robert W. Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C. Grünert, Andreas Roos, Rita Horvath

J Inherit Metab Dis. 2020 Mar; 43(2): 297–308. Published online 2019 Aug 13. doi: 10.1002/jimd.12156

PMCID:: PMC7078914

Article PDF–2.2M

Select item 67522774.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden-Grant, Amy LaCroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara Burton, Katherine Kim, Leah Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Ficicioglu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

Genet Med. 2019; 21(3): 601–607. Published online 2018 Sep 24. doi: 10.1038/s41436-018-0137-y

Correction in:: Genet Med. 2019; 21(8): 1899.

PMCID:: PMC6752277

Article PDF–951K

Select item 47463375.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Reka Kovacs-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack

Am J Hum Genet. 2016 Feb 4; 98(2): 358–362. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.009

PMCID:: PMC4746337

Article PDF–402K

Select item 47463346.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep Hande Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus Wilfong, Hope Northrup, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane Crosson, Jessica Duis, Gustavo H.B. Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

Am J Hum Genet. 2016 Feb 4; 98(2): 347–357. Published online 2016 Jan 21. doi: 10.1016/j.ajhg.2015.12.008

PMCID:: PMC4746334

Article PDF–1.4M

Select item 27295127.

Mitochondral localization and function of a subset of 22q11 Deletion Syndrome candidate genes

T. M. Maynard, D. W. Meechan, M. L. Dudevoir, D. Gopalakrishna, A. Z. Peters, C. C. Heindel, T. J. Sugimoto, Y. Wu, J. A. Lieberman, A.-S. LaMantia

Mol Cell Neurosci. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Mol Cell Neurosci. 2008 Nov; 39(3): 439–451. Published online 2008 Aug 15. doi: 10.1016/j.mcn.2008.07.027

PMCID:: PMC2729512

Article PDF–7.5M

Select item 82827648.

N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation

Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas

Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.

Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017

PMCID:: PMC8282764

Article PDF–3.4M

Select item 5456049.

A genome annotation-driven approach to cloning the human ORFeome

John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham

Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84

PMCID:: PMC545604

Article PDF–762K

Select item 596587210.

Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrP^C) in Alzheimer’s disease

Sarah Ulbrich, Petra Janning, Ralf Seidel, Jakob Matschke, Anika Gonsberg, Sebastian Jung, Markus Glatzel, Martin Engelhard, Konstanze F. Winklhofer, Jörg Tatzelt

PLoS One. 2018; 13(5): e0197659. Published online 2018 May 23. doi: 10.1371/journal.pone.0197659

PMCID:: PMC5965872

Article PDF–2.4M

Select item 563060011.

Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism

Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell

Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8

PMCID:: PMC5630600

Article PDF–2.3M

Select item 51531612.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Article PDF–181K

Select item 549522513.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Article PDF–1.3M

Select item 268304714.

Ubiquitin-mediated proteolysis of HuR by heat shock

Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe

EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67

PMCID:: PMC2683047

Article PDF–1.4M

Select item 347780415.

A Census of Human Soluble Protein Complexes

Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili

Cell. Author manuscript; available in PMC 2013 Aug 31.

Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011

PMCID:: PMC3477804

Article PDF–7.7M

Select item 927928516.

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

Article PDF–2.5M

Select item 503652717.

Panorama of ancient metazoan macromolecular complexes

Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili

Nature. Author manuscript; available in PMC 2016 Sep 26.

Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877

PMCID:: PMC5036527

Article PDF–4.7M

Select item 135612918.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Article PDF–438K

Select item 461721119.

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

Article PDF–2.2M

Select item 553161120.

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

Article PDF–2.7M

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