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Items: 1 to 20 of 21

1.
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
Ilaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, Federica Isidori, Francesca Montanari, Mina Grippa, Giulia Lanzoni, Irene Ambrosetti, Veronica Di Pisa, Duccio Maria Cordelli, Maria Cristina Mondardini, Tommaso Pippucci, Luca Ragni, Giovanna Cenacchi, Roberta Costa, Mario Lima, Maria Antonietta Capristo, Concetta Valentina Tropeano, Leonardo Caporali, Valerio Carelli, Elena Brunelli, Monica Maffei, Hodman Ahmed Sheikhmaye, Anna Fetta, Gloria Brea-Calvo, Caterina Garone
Eur J Hum Genet. 2024 Aug; 32(8): 938–946. Published online 2024 May 3. doi: 10.1038/s41431-024-01615-w
PMCID:
PMC11291740
AbstractArticlePDF–2.8M
2.
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
AbstractArticlePDF–1.3M
3.
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
AbstractArticlePDF–620K
4.
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
AbstractArticlePDF–4.1M
5.
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context
Marcel Morgenstern, Christian D. Peikert, Philipp Lübbert, Ida Suppanz, Cinzia Klemm, Oliver Alka, Conny Steiert, Nataliia Naumenko, Alexander Schendzielorz, Laura Melchionda, Wignand W.D. Mühlhäuser, Bettina Knapp, Jakob D. Busch, Sebastian B. Stiller, Stefan Dannenmaier, Caroline Lindau, Mariya Licheva, Christopher Eickhorst, Riccardo Galbusera, Ralf M. Zerbes, Michael T. Ryan, Claudine Kraft, Vera Kozjak-Pavlovic, Friedel Drepper, Sven Dennerlein, Silke Oeljeklaus, Nikolaus Pfanner, Nils Wiedemann, Bettina Warscheid
Cell Metab. 2021 Dec 7; 33(12): 2464–2483.e18. doi: 10.1016/j.cmet.2021.11.001
PMCID:
PMC8664129
AbstractArticle
6.
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
AbstractArticlePDF–2.2M
7.
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
AbstractArticlePDF–1.2M
8.
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
AbstractArticlePDF–2.3M
9.
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
AbstractArticlePDF–2.0M
10.
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
AbstractArticlePDF–1.7M
11.
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
AbstractArticlePDF–3.0M
12.
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
AbstractArticlePDF–1.7M
13.
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
AbstractArticlePDF–1.0M
14.
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
AbstractArticlePDF–461K
15.
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
AbstractArticlePDF–1.2M
16.
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
AbstractArticlePDF–301K
17.
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
AbstractArticlePDF–375K
18.
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
AbstractArticlePDF–459K
19.
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
AbstractArticlePDF–542K
20.
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
AbstractArticlePDF–1.7M

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