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Select item 110174161.

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype

Qiao Wei, Hao Yu, Pei‐Shan Wang, Juan‐Juan Xie, Hai‐Lin Dong, Zhi‐Ying Wu, Hong‐Fu Li

CNS Neurosci Ther. 2024 Apr; 30(4): e14529. Published online 2023 Nov 27. doi: 10.1111/cns.14529

PMCID:: PMC11017416

Abstract Article PDF–4.4M

Select item 93383132.

HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis

Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai

Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4

PMCID:: PMC9338313

Abstract Article PDF–2.8M

Select item 92626143.

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

Abstract Article PDF–3.6M

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 75668815.

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

Abstract Article PDF–4.8M

Select item 71699836.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 57314907.

Biochemistry of Mitochondrial Coenzyme Q Biosynthesis

Jonathan A. Stefely, David J. Pagliarini

Trends Biochem Sci. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Trends Biochem Sci. 2017 Oct; 42(10): 824–843. Published online 2017 Sep 17. doi: 10.1016/j.tibs.2017.06.008

PMCID:: PMC5731490

Abstract Article PDF–1.2M

Select item 49924568.

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 43451049.

Functional characterization of human COQ4, a gene required for Coenzyme Q₁₀ biosynthesis

Alberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, Vanessa Pertegato, Mara Doimo, Maria Lara Ferrero-Gomez, Sara Abbadi, Rafael Artuch, Catarina Quinzii, Michio Hirano, Giuseppe Basso, Carlos Santos Ocaña, Placido Navas, Leonardo Salviati

Biochem Biophys Res Commun. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Biochem Biophys Res Commun. 2008 Jul 18; 372(1): 35–39. Published online 2008 May 12. doi: 10.1016/j.bbrc.2008.04.172

PMCID:: PMC4345104

Abstract Article PDF–357K

Select item 433167110.

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q₁₀ biosynthesis

Theresa P.T. Nguyen, Alberto Casarin, Maria Andrea Desbats, Mara Doimo, Eva Trevisson, Carlos Santos-Ocaña, Placido Navas, Catherine F. Clarke, Leonardo Salviati

Biochim Biophys Acta Mol Cell Biol Lipids. 2014 Nov; 1841(11): 1628–1638. doi: 10.1016/j.bbalip.2014.08.007

PMCID:: PMC4331671

Abstract Article

Select item 432025511.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ₁₀ Deficiency

Gloria Brea-Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl-Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Placido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi

Am J Hum Genet. 2015 Feb 5; 96(2): 309–317. doi: 10.1016/j.ajhg.2014.12.023

PMCID:: PMC4320255

Abstract Article PDF–644K

Select item 411252712.

Genetics of Coenzyme Q₁₀ Deficiency

Mara Doimo, Maria A. Desbats, Cristina Cerqua, Matteo Cassina, Eva Trevisson, Leonardo Salviati

Mol Syndromol. 2014 Jul; 5(3-4): 156–162. Published online 2014 May 21. doi: 10.1159/000362826

PMCID:: PMC4112527

Abstract Article PDF–101K

Select item 398394613.

Haploinsufficiency of COQ4 causes coenzyme Q₁₀ deficiency

Leonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, Alberto Casarin, Vanessa Pertegato, Mara Doimo, Matteo Cassina, Caterina Agosto, Maria Andrea Desbats, Geppo Sartori, Sabrina Sacconi, Luigi Memo, Orsetta Zuffardi, Rafael Artuch, Catarina Quinzii, Salvatore DiMauro, Michio Hirano, Carlos Santos-Ocaña, Plácido Navas

J Med Genet. Author manuscript; available in PMC 2014 Apr 11.

Published in final edited form as: J Med Genet. 2012 Mar; 49(3): 187–191. doi: 10.1136/jmedgenet-2011-100394

PMCID:: PMC3983946

Abstract Article PDF–674K

Select item 352258714.

Novel Genetic Loci Identified for the Pathophysiology of Childhood Obesity in the Hispanic Population

Anthony G. Comuzzie, Shelley A. Cole, Sandra L. Laston, V. Saroja Voruganti, Karin Haack, Richard A. Gibbs, Nancy F. Butte

PLoS One. 2012; 7(12): e51954. Published online 2012 Dec 14. doi: 10.1371/journal.pone.0051954

PMCID:: PMC3522587

Abstract Article PDF–130K

Select item 317805915.

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 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 134750117.

The LIFEdb database in 2006

Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann

Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139

PMCID:: PMC1347501

Abstract Article PDF–301K

Select item 108373218.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 52893019.

From ORFeome to Biology: A Functional Genomics Pipeline

Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka

Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704

PMCID:: PMC528930

Abstract Article PDF–459K

Select item 52892820.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

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