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Items: 1 to 20 of 58

1.
Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia
Khanh-Nhat Tran-Viet, Caldwell Powell, Veluchamy A. Barathi, Thomas Klemm, Sebastian Maurer-Stroh, Vachiranee Limviphuvadh, Vincent Soler, Candice Ho, Tammy Yanovitch, Georg Schneider, Yi-Ju Li, Erica Nading, Ravikanth Metlapally, Seang-Mei Saw, Liang Goh, Steve Rozen, Terri L. Young
Am J Hum Genet. 2013 May 2; 92(5): 820–826. doi: 10.1016/j.ajhg.2013.04.005
PMCID:
PMC3644634
AbstractArticlePDF–504K
2.
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.
Leonardo Salviati, Evelyn Hernandez-Rosa, Winsome F Walker, Sabrina Sacconi, Salvatore DiMauro, Eric A Schon, Mercy M Davidson
Biochem J. 2002 Apr 15; 363(Pt 2): 321–327. doi: 10.1042/0264-6021:3630321
PMCID:
PMC1222481
SummaryPDF–299K
3.
Genomewide Linkage Scan for Myopia Susceptibility Loci among Ashkenazi Jewish Families Shows Evidence of Linkage on Chromosome 22q12
Dwight Stambolian, Grace Ibay, Lauren Reider, Debra Dana, Chris Moy, Melissa Schlifka, Taura Holmes, Elise Ciner, Joan E. Bailey-Wilson
Am J Hum Genet. 2004 Sep; 75(3): 448–459. Published online 2004 Jul 23. doi: 10.1086/423789
PMCID:
PMC1182023
AbstractArticlePDF–195K
4.
Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals
Kalpana J. Kallianpur, Maegen Walker, Mariana Gerschenson, Cecilia M. Shikuma, Louie Mar A. Gangcuangco, Lindsay Kohorn, Daniel E. Libutti, Talia M. Nir, Neda Jahanshad, Paul M. Thompson, Robert Paul
AIDS Res Hum Retroviruses. January 2020; 36(1): 83–91. Published online 2019 Dec 31. doi: 10.1089/aid.2019.0240
Correction in:
AIDS Res Hum Retroviruses. December 2020; 36(12): 1083.
PMCID:
PMC6944134
AbstractArticlePDF–190K
5.
Loop recognition and copper-mediated disulfide reduction underpin metal site assembly of CuA in human cytochrome oxidase
Marcos N. Morgada, Luciano A. Abriata, Chiara Cefaro, Karolina Gajda, Lucia Banci, Alejandro J. Vila
Proc Natl Acad Sci U S A. 2015 Sep 22; 112(38): 11771–11776. Published online 2015 Sep 8. doi: 10.1073/pnas.1505056112
PMCID:
PMC4586878
AbstractArticlePDF–1.0M
6.
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1
Lukas Stiburek, Katerina Vesela, Hana Hansikova, Petr Pecina, Marketa Tesarova, Leona Cerna, Josef Houstek, Jiri Zeman
Biochem J. 2005 Dec 15; 392(Pt 3): 625–632. Prepublished online 2005 Aug 8. Published online 2005 Dec 6. doi: 10.1042/BJ20050807
PMCID:
PMC1316303
AbstractArticlePDF–340K
7.
The oncoprotein HBXIP promotes glucose metabolism reprogramming via downregulating SCO2 and PDHA1 in breast cancer
Fabao Liu, Weiying Zhang, Xiaona You, Yunxia Liu, Yinghui Li, Zhen Wang, Yue Wang, Xiaodong Zhang, Lihong Ye
Oncotarget. 2015 Sep 29; 6(29): 27199–27213. Published online 2015 Jul 30. doi: 10.18632/oncotarget.4508
PMCID:
PMC4694983
AbstractArticlePDF–3.8M
8.
SCO2 Induces p53-Mediated Apoptosis by Thr845 Phosphorylation of ASK-1 and Dissociation of the ASK-1–Trx Complex
Esha Madan, Rajan Gogna, Periannan Kuppusamy, Madan Bhatt, Abbas Ali Mahdi, Uttam Pati
Mol Cell Biol. 2013 Apr; 33(7): 1285–1302. doi: 10.1128/MCB.06798-11
PMCID:
PMC3624269
AbstractArticlePDF–3.6M
9.
SCO2 mediates oxidative stress-induced glycolysis to OXPHOS switch in hematopoietic stem cells
Wei Du, Surya Amarachintha, Andrew F. Wilson, Qishen Pang
Stem Cells. Author manuscript; available in PMC 2017 Apr 1.
Published in final edited form as: Stem Cells. 2016 Apr; 34(4): 960–971. Published online 2015 Dec 31. doi: 10.1002/stem.2260
PMCID:
PMC4838537
AbstractArticlePDF–1.7M
10.
Unexpected Vascular Enrichment of SCO1 over SCO2 in Mammalian Tissues : Implications for Human Mitochondrial Disease
Sonja Brosel, Hua Yang, Kurenai Tanji, Eduardo Bonilla, Eric A. Schon
Am J Pathol. 2010 Nov; 177(5): 2541–2548. doi: 10.2353/ajpath.2010.100229
PMCID:
PMC2966810
AbstractArticlePDF–2.4M
11.
COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis
Abhishek Aich, Cong Wang, Arpita Chowdhury, Christin Ronsör, David Pacheu-Grau, Ricarda Richter-Dennerlein, Sven Dennerlein, Peter Rehling
eLife. 2018; 7: e32572. Published online 2018 Jan 30. doi: 10.7554/eLife.32572
PMCID:
PMC5809144
AbstractArticlePDF–3.5M
12.
Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module
Myriam Bourens, Antoni Barrientos
J Biol Chem. 2017 May 12; 292(19): 7774–7783. Published online 2017 Mar 22. doi: 10.1074/jbc.M117.778514
PMCID:
PMC5427259
AbstractArticlePDF–1.5M
13.
Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase
Myriam Bourens, Aren Boulet, Scot C. Leary, Antoni Barrientos
Hum Mol Genet. 2014 Jun 1; 23(11): 2901–2913. Published online 2014 Jan 8. doi: 10.1093/hmg/ddu003
PMCID:
PMC4014192
AbstractArticlePDF–1.0M
14.
The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis
Isotta Lorenzi, Silke Oeljeklaus, Abhishek Aich, Christin Ronsör, Sylvie Callegari, Jan Dudek, Bettina Warscheid, Sven Dennerlein, Peter Rehling
Biochim Biophys Acta. 2018 Feb; 1865(2): 323–333. doi: 10.1016/j.bbamcr.2017.11.010
PMCID:
PMC5764226
AbstractArticle
15.
Reevaluating Human Gene Annotation: A Second-Generation Analysis of Chromosome 22
John E. Collins, Melanie E. Goward, Charlotte G. Cole, Luc J. Smink, Elizabeth J. Huckle, Sarah Knowles, Jacqueline M. Bye, David M. Beare, Ian Dunham
Genome Res. 2003 Jan 1; 13(1): 27–36. doi: 10.1101/gr.695703
PMCID:
PMC430954
AbstractArticlePDF–196K
16.
A new intracellular targeting motif in the cytoplasmic tail of the spike protein may act as a target to inhibit SARS-CoV-2 assembly
Longbo Hu, Yongjie Tang, Lingling Mei, Mengdi Liang, Jinxian Huang, Xufei Wang, Liping Wu, Jiajing Jiang, Leyi Li, Fei Long, Jing Xiao, Long Tan, Shaohua Lu, Tao Peng
Antiviral Res. 2023 Jan; 209: 105509. Published online 2022 Dec 24. doi: 10.1016/j.antiviral.2022.105509
PMCID:
PMC9788845
AbstractArticlePDF–6.6M
17.
The Shieldin complex mediates 53BP1-dependent DNA repair
Sylvie M. Noordermeer, Salomé Adam, Dheva Setiaputra, Marco Barazas, Stephen J. Pettitt, Alexanda K. Ling, Michele Olivieri, Alejandro Álvarez-Quilón, Nathalie Moatti, Michal Zimmermann, Stefano Annunziato, Dragomir B. Krastev, Feifei Song, Inger Brandsma, Jessica Frankum, Rachel Brough, Alana Sherker, Sébastien Landry, Rachel K. Szilard, Meagan M. Munro, Andrea McEwan, Théo Goullet de Rugy, Zhen-Yuan Lin, Traver Hart, Jason Moffat, Anne-Claude Gingras, Alberto Martin, Haico van Attikum, Jos Jonkers, Christopher J. Lord, Sven Rottenberg, Daniel Durocher
Nature. Author manuscript; available in PMC 2019 Jan 18.
Published in final edited form as: Nature. 2018 Aug; 560(7716): 117–121. Published online 2018 Jul 18. doi: 10.1038/s41586-018-0340-7
PMCID:
PMC6141009
AbstractArticlePDF–5.1M
18.
Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy
Waka Kojima, Koji Yamano, Hidetaka Kosako, Kenichiro Imai, Reika Kikuchi, Keiji Tanaka, Noriyuki Matsuda
Autophagy. 2021; 17(8): 2011–2036. Published online 2021 Jan 26. doi: 10.1080/15548627.2021.1874133
PMCID:
PMC8386740
AbstractArticlePDF–13M
19.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Johanna Hietamäki, Louise C Gregory, Sandy Ayoub, Anna-Pauliina Iivonen, Kirsi Vaaralahti, Xiaonan Liu, Nina Brandstack, Andrew J Buckton, Tiina Laine, Johanna Känsäkoski, Matti Hero, Päivi J Miettinen, Markku Varjosalo, Emma Wakeling, Mehul T Dattani, Taneli Raivio
J Clin Endocrinol Metab. 2020 Jun; 105(6): 1748–1758. Published online 2020 Feb 15. doi: 10.1210/clinem/dgaa078
PMCID:
PMC7138537
AbstractArticle
20.
Seventy-five genetic loci influencing the human red blood cell
Pim van der Harst, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Niek Verweij, Joban Sehmi, Dirk S. Paul, Ulrich Elling, Hooman Allayee, Xinzhong Li, Aparna Radhakrishnan, Sian-Tsung Tan, Katrin Voss, Christian X. Weichenberger, Cornelis A. Albers, Abtehale Al-Hussani, Folkert W. Asselbergs, Marina Ciullo, Fabrice Danjou, Christian Dina, Tõnu Esko, David M. Evans, Lude Franke, Martin Gögele, Jaana Hartiala, Micha Hersch, Hilma Holm, Jouke-Jan Hottenga, Stavroula Kanoni, Marcus E. Kleber, Vasiliki Lagou, Claudia Langenberg, Lorna M. Lopez, Leo-Pekka Lyytikäinen, Olle Melander, Federico Murgia, Ilja M. Nolte, Paul F. O’Reilly, Sandosh Padmanabhan, Afshin Parsa, Nicola Pirastu, Eleonora Porcu, Laura Portas, Inga Prokopenko, Janina S. Ried, So-Youn Shin, Clara S. Tang, Alexander Teumer, Michela Traglia, Sheila Ulivi, Harm-Jan Westra, Jian Yang, Jing Hua Zhao, Franco Anni, Abdel Abdellaoui, Antony Attwood, Beverley Balkau, Stefania Bandinelli, François Bastardot, Beben Benyamin, Bernhard O. Boehm, William O. Cookson, Debashish Das, Paul I. W. de Bakker, Rudolf A. de Boer, Eco J. C. de Geus, Marleen H. de Moor, Maria Dimitriou, Francisco S. Domingues, Angela Döring, Gunnar Engström, Gudmundur Ingi Eyjolfsson, Luigi Ferrucci, Krista Fischer, Renzo Galanello, Stephen F. Garner, Bernd Genser, Quince D. Gibson, Giorgia Girotto, Daniel Fannar Gudbjartsson, Sarah E. Harris, Anna-Liisa Hartikainen, Claire E. Hastie, Bo Hedblad, Thomas Illig, Jennifer Jolley, Mika Kähönen, Ido P. Kema, John P. Kemp, Liming Liang, Heather Lloyd-Jones, Ruth J. F. Loos, Stuart Meacham, Sarah E. Medland, Christa Meisinger, Yasin Memari, Evelin Mihailov, Kathy Miller, Miriam F. Moffatt, Matthias Nauck, Maria Novatchkova, Teresa Nutile, Isleifur Olafsson, Pall T. Onundarson, Debora Parracciani, Brenda W. Penninx, Lucia Perseu, Antonio Piga, Giorgio Pistis, Anneli Pouta, Ursula Puc, Olli Raitakari, Susan M. Ring, Antonietta Robino, Daniela Ruggiero, Aimo Ruokonen, Aude Saint-Pierre, Cinzia Sala, Andres Salumets, Jennifer Sambrook, Hein Schepers, Carsten Oliver Schmidt, Herman H. W. Silljé, Rob Sladek, Johannes H. Smit, John M. Starr, Jonathan Stephens, Patrick Sulem, Toshiko Tanaka, Unnur Thorsteinsdottir, Vinicius Tragante, Wiek H. van Gilst, L. Joost van Pelt, Dirk J. van Veldhuisen, Uwe Völker, John B. Whitfield, Gonneke Willemsen, Bernhard R. Winkelmann, Gerald Wirnsberger, Ale Algra, Francesco Cucca, Adamo Pio d’Adamo, John Danesh, Ian J. Deary, Anna F. Dominiczak, Paul Elliott, Paolo Fortina, Philippe Froguel, Paolo Gasparini, Andreas Greinacher, Stanley L. Hazen, Marjo-Riitta Jarvelin, Kay Tee Khaw, Terho Lehtimäki, Winfried Maerz, Nicholas G. Martin, Andres Metspalu, Braxton D. Mitchell, Grant W. Montgomery, Carmel Moore, Gerjan Navis, Mario Pirastu, Peter P. Pramstaller, Ramiro Ramirez-Solis, Eric Schadt, James Scott, Alan R. Shuldiner, George Davey Smith, J. Gustav Smith, Harold Snieder, Rossella Sorice, Tim D. Spector, Kari Stefansson, Michael Stumvoll, W. H. Wilson Tang, Daniela Toniolo, Anke Tönjes, Peter M. Visscher, Peter Vollenweider, Nicholas J. Wareham, Bruce H. R. Wolffenbuttel, Dorret I. Boomsma, Jacques S. Beckmann, George V. Dedoussis, Panos Deloukas, Manuel A. Ferreira, Serena Sanna, Manuela Uda, Andrew A. Hicks, Josef Martin Penninger, Christian Gieger, Jaspal S. Kooner, Willem H. Ouwehand, Nicole Soranzo, John C Chambers
Nature. Author manuscript; available in PMC 2013 Apr 11.
Published in final edited form as: Nature. 2012 Dec 20; 492(7429): 369–375. Published online 2012 Dec 5. doi: 10.1038/nature11677
PMCID:
PMC3623669
AbstractArticlePDF–1.7M

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