PMC Links for GEO Profiles (Select 78764955) - PMC

Select item 109957461.

Phenotypic, Molecular, and Functional Characterization of CoQ7-Related Primary CoQ₁₀ Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities

Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M. de Gusmao, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

Mol Genet Metab. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Mol Genet Metab. 2023 Aug; 139(4): 107630. Published online 2023 Jun 22. doi: 10.1016/j.ymgme.2023.107630

PMCID:: PMC10995746

Abstract Article PDF–1.3M

Select item 105456122.

Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs

Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike F Dohrn, Eva Nyvltova, Matt C Danzi, Mark Garrett, Sean E Smith, Alan Pestronk, Chengcheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Jr, Marcus V Gomes, Diogo F Santos, Surinder Kumar, David B Lombard, Mario Saporta, Siegfried Hekimi, Antoni Barrientos, Conrad Weihl, Michael E Shy, Wilson Marques, Stephan Zuchner

Brain. 2023 Oct; 146(10): 4191–4199. Published online 2023 May 12. doi: 10.1093/brain/awad158

PMCID:: PMC10545612

Abstract Article PDF–620K

Select item 100586413.

Structure and functionality of a multimeric human COQ7:COQ9 complex

Mateusz Manicki, Halil Aydin, Luciano A. Abriata, Katherine A. Overmyer, Rachel M. Guerra, Joshua J. Coon, Matteo Dal Peraro, Adam Frost, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2023 Nov 17.

Published in final edited form as: Mol Cell. 2022 Nov 17; 82(22): 4307–4323.e10. Published online 2022 Oct 27. doi: 10.1016/j.molcel.2022.10.003

PMCID:: PMC10058641

Abstract Article PDF–4.1M

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 57314905.

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 56306006.

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

Abstract Article PDF–2.3M

Select item 56186877.

Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

Ying Wang, Christopher Smith, Jillian S. Parboosingh, Aneal Khan, Micheil Innes, Siegfried Hekimi

J Cell Mol Med. 2017 Oct; 21(10): 2329–2343. Published online 2017 Apr 13. doi: 10.1111/jcmm.13154

PMCID:: PMC5618687

Abstract Article PDF–2.0M

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 45395819.

A nuclear role for the respiratory enzyme CLK-1/COQ7 in regulating mitochondrial stress responses and longevity

Richard M. Monaghan, Robert G. Barnes, Kate Fisher, Tereza Andreou, Nicholas Rooney, Gino B. Poulin, Alan J. Whitmarsh

Nat Cell Biol. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Nat Cell Biol. 2015 Jun; 17(6): 782–792. Published online 2015 May 11. doi: 10.1038/ncb3170

PMCID:: PMC4539581

Abstract Article PDF–3.0M

Select item 422611310.

Mitochondrial COQ9 is a lipid-binding protein that associates with COQ7 to enable coenzyme Q biosynthesis

Danielle C. Lohman, Farhad Forouhar, Emily T. Beebe, Matthew S. Stefely, Catherine E. Minogue, Arne Ulbrich, Jonathan A. Stefely, Shravan Sukumar, Marta Luna-Sánchez, Adam Jochem, Scott Lew, Jayaraman Seetharaman, Rong Xiao, Huang Wang, Michael S. Westphall, Russell L. Wrobel, John K. Everett, Julie C. Mitchell, Luis C. López, Joshua J. Coon, Liang Tong, David J. Pagliarini

Proc Natl Acad Sci U S A. 2014 Nov 4; 111(44): E4697–E4705. Published online 2014 Oct 22. doi: 10.1073/pnas.1413128111

PMCID:: PMC4226113

Abstract Article PDF–1.7M

Select item 317805911.

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 294347612.

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 269966913.

SUPEROXIDE DISMUTASE IS REGULATED BY LAMMER KINASE IN DROSOPHILA AND HUMAN CELLS

Brian P. James, William D. Staatz, Sarah T. Wilkinson, Emmanuelle Meuillet, Garth Powis

Free Radic Biol Med. Author manuscript; available in PMC 2010 Mar 15.

Published in final edited form as: Free Radic Biol Med. 2009 Mar 15; 46(6): 821–827. Published online 2008 Dec 24. doi: 10.1016/j.freeradbiomed.2008.12.012

PMCID:: PMC2699669

Abstract Article PDF–1.2M

Select item 134750114.

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 108373215.

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 52893016.

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 31107217.

Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann, Bernd Weil, Ruth Wellenreuther, Johannes Gassenhuber, Sabine Glassl, Wilhelm Ansorge, Michael Böcher, Helmut Blöcker, Stefan Bauersachs, Helmut Blum, Jürgen Lauber, Andreas Düsterhöft, Andreas Beyer, Karl Köhrer, Normann Strack, Hans-Werner Mewes, Birgit Ottenwälder, Brigitte Obermaier, Jens Tampe, Dagmar Heubner, Rolf Wambutt, Bernhard Korn, Michaela Klein, Annemarie Poustka

Genome Res. 2001 Mar; 11(3): 422–435. doi: 10.1101/gr.154701

PMCID:: PMC311072

Abstract Article PDF–542K

Select item 31094818.

DNA Cloning Using In Vitro Site-Specific Recombination

James L. Hartley, Gary F. Temple, Michael A. Brasch

Genome Res. 2000 Nov; 10(11): 1788–1795. doi: 10.1101/gr.143000

PMCID:: PMC310948

Abstract Article PDF–1.7M

Select item 13924119.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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