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Items: 1 to 20 of 120

1.
The [PSI+] prion modulates cytochrome c oxidase deficiency caused by deletion of COX12
Pawan Kumar Saini, Hannah Dawitz, Andreas Aufschnaiter, Stanislav Bondarev, Jinsu Thomas, Amélie Amblard, James Stewart, Nicolas Thierry-Mieg, Martin Ott, Fabien Pierrel
Mol Biol Cell. 2022 Dec 1; 33(14): ar130. Published online 2022 Nov 18. doi: 10.1091/mbc.E21-10-0499
PMCID:
PMC9727813
ArticlePubReaderPDF–2.5MCite
2.
Neuropathologic Aspects of Cytochrome C Oxidase Deficiency
Kurenai Tanji, Eduardo Bonilla
Brain Pathol. 2000 Jul; 10(3): 422–430. Published online 2006 Apr 5. doi: 10.1111/j.1750-3639.2000.tb00274.x
PMCID:
PMC8098353
SummaryPDF–136KCite
3.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Liesbeth T. M. Wintjes, Maina Kava, Frans A. van den Brandt, Mariël A. M. van den Brand, Oksana Lapina, Yngve T. Bliksrud, Mari A. Kulseth, Silja S. Amundsen, Terje R. Selberg, Marion Ybema‐Antoine, Omar A. Z. Tutakhel, Lawrence Greed, David R. Thorburn, Trine Tangeraas, Shanti Balasubramaniam, Richard J. T. Rodenburg
Hum Mutat. 2021 Feb; 42(2): 135–141. Published online 2020 Nov 30. doi: 10.1002/humu.24137
PMCID:
PMC7898715
ArticlePubReaderPDF–1.3MCite
4.
Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster
Michele Brischigliaro, Samantha Corrà, Claudia Tregnago, Erika Fernandez-Vizarra, Massimo Zeviani, Rodolfo Costa, Cristiano De Pittà
Front Physiol. 2019; 10: 1143. Published online 2019 Sep 6. doi: 10.3389/fphys.2019.01143
PMCID:
PMC6742693
ArticlePubReaderPDF–6.8MCite
5.
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency
Hicham Mansour, Sandra Sabbagh, Sami Bizzari, Stephany El-Hayek, Eliane Chouery, Alicia Gambarini, Martin Gencik, André Mégarbané
J Pediatr Genet. 2019 Sep; 8(3): 172–178. Published online 2019 Apr 16. doi: 10.1055/s-0039-1685172
PMCID:
PMC6688892
ArticlePubReaderPDF–204KCite
6.
Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage
Liza Douiev, Bassam Abu-Libdeh, Ann Saada
Eur J Hum Genet. 2018 Apr; 26(4): 579–581. Published online 2018 Feb 2. doi: 10.1038/s41431-017-0047-5
PMCID:
PMC5891488
ArticlePubReaderPDF–453KCite
7.
Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency
Arne Björn Potthast, Theresa Heuer, Simone Johanna Warneke, Anibh Martin Das
PLoS One. 2017; 12(10): e0186517. Published online 2017 Oct 23. doi: 10.1371/journal.pone.0186517
PMCID:
PMC5653369
ArticlePubReaderPDF–10MCite
8.
Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg, Ann Saada
JIMD Rep. 2017; 33: 55–60. Published online 2016 Aug 19. doi: 10.1007/8904_2016_580
PMCID:
PMC5413448
ArticlePubReaderPDF–213KCite
9.
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
J Med Genet. 2016 Dec; 53(12): 846–849. Published online 2016 Sep 28. doi: 10.1136/jmedgenet-2016-104194
PMCID:
PMC5264227
ArticlePubReaderPDF–881KCite
10.
Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6
S Schüll, S D Günther, S Brodesser, J M Seeger, B Tosetti, K Wiegmann, C Pongratz, F Diaz, A Witt, M Andree, K Brinkmann, M Krönke, R J Wiesner, H Kashkar
Cell Death Dis. 2015 Mar; 6(3): e1691. Published online 2015 Mar 12. doi: 10.1038/cddis.2015.62
PMCID:
PMC4385940
ArticlePubReaderPDF–2.9MCite
11.
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica AC Houghton, Langping He, Andrew AM Morris, Garry K Brown, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Holger Prokisch, Robert W Taylor
Eur J Hum Genet. 2015 Jul; 23(7): 935–939. Published online 2014 Oct 8. doi: 10.1038/ejhg.2014.214
PMCID:
PMC4305338
ArticlePubReaderPDF–561KCite
12.
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
Laura Melchionda, Tobias B. Haack, Steven Hardy, Truus E.M. Abbink, Erika Fernandez-Vizarra, Eleonora Lamantea, Silvia Marchet, Lucia Morandi, Maurizio Moggio, Rosalba Carrozzo, Alessandra Torraco, Daria Diodato, Tim M. Strom, Thomas Meitinger, Pinar Tekturk, Zuhal Yapici, Fathiya Al-Murshedi, René Stevens, Richard J. Rodenburg, Costanza Lamperti, Anna Ardissone, Isabella Moroni, Graziella Uziel, Holger Prokisch, Robert W. Taylor, Enrico Bertini, Marjo S. van der Knaap, Daniele Ghezzi, Massimo Zeviani
Am J Hum Genet. 2014 Sep 4; 95(3): 315–325. doi: 10.1016/j.ajhg.2014.08.003
PMCID:
PMC4157140
ArticlePubReaderPDF–1.6MCite
13.
Cytochrome c Oxidase Deficiency in Human Posterior Cricoarytenoid Muscle
Cari M Tellis, Clark Rosen, John M Close, Michael Horton, J. Scott Yaruss, Katherine Verdolini-Abbott, James J Sciote
J Voice. Author manuscript; available in PMC 2014 Feb 7.
Published in final edited form as: J Voice. 2011 Jul; 25(4): 387–394. Published online 2010 Aug 4. doi: 10.1016/j.jvoice.2010.03.002
PMCID:
PMC3917494
ArticlePubReaderPDF–782KCite
14.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
Abdulraheem Almalki, Charlotte L. Alston, Alasdair Parker, Ingrid Simonic, Sarju G. Mehta, Langping He, Mojgan Reza, Jorge M.A. Oliveira, Robert N. Lightowlers, Robert McFarland, Robert W. Taylor, Zofia M.A. Chrzanowska-Lightowlers
Biochim Biophys Acta. 2014 Jan; 1842(1): 56–64. doi: 10.1016/j.bbadis.2013.10.008
PMCID:
PMC3898479
ArticlePubReaderPDF–1.6MCite
15.
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations
Alberto Casarin, Gianpietro Giorgi, Vanessa Pertegato, Roberta Siviero, Cristina Cerqua, Mara Doimo, Giuseppe Basso, Sabrina Sacconi, Matteo Cassina, Rosario Rizzuto, Sonja Brosel, Mercy M Davidson, Salvatore DiMauro, Eric A Schon, Maurizio Clementi, Eva Trevisson, Leonardo Salviati
Orphanet J Rare Dis. 2012; 7: 21. Published online 2012 Apr 19. doi: 10.1186/1750-1172-7-21
PMCID:
PMC3445839
ArticlePubReaderPDF–782KCite
16.
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells
Emmanuel P Dassa, Eric Dufour, Sérgio Gonçalves, Vincent Paupe, Gertjan A J Hakkaart, Howard T Jacobs, Pierre Rustin
EMBO Mol Med. 2009 Apr; 1(1): 30–36. doi: 10.1002/emmm.200900001
PMCID:
PMC3378104
ArticlePubReaderPDF–464KCite
17.
Isolated cytochrome c oxidase deficiency as a cause of MELAS
Walter Rossmanith, Michael Freilinger, Julia Roka, Thomas Raffelsberger, Karin Moser-Their, Daniela Prayer, Günther Bernert, Reginald Bittner
BMJ Case Rep. 2009; 2009: bcr08.2008.0666. Published online 2009 Jan 23. doi: 10.1136/bcr.08.2008.0666
PMCID:
PMC3027970
ArticlePubReaderCite
18.
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules
Patrick Yu-Wai-Man, Kamil S. Sitarz, David C. Samuels, Philip G. Griffiths, Amy K. Reeve, Laurence A. Bindoff, Rita Horvath, Patrick F. Chinnery
Hum Mol Genet. 2010 Aug 1; 19(15): 3043–3052. Published online 2010 May 18. doi: 10.1093/hmg/ddq209
PMCID:
PMC2901142
ArticlePubReaderPDF–218KCite
19.
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
Rita Horvath, John P. Kemp, Helen A. L. Tuppen, Gavin Hudson, Anders Oldfors, Suely K. N. Marie, Ali-Reza Moslemi, Serenella Servidei, Elisabeth Holme, Sara Shanske, Gittan Kollberg, Parul Jayakar, Angela Pyle, Harold M. Marks, Elke Holinski-Feder, Mena Scavina, Maggie C. Walter, Jorida Çoku, Andrea Günther-Scholz, Paul M. Smith, Robert McFarland, Zofia M. A. Chrzanowska-Lightowlers, Robert N. Lightowlers, Michio Hirano, Hanns Lochmüller, Robert W. Taylor, Patrick F. Chinnery, Mar Tulinius, Salvatore DiMauro
Brain. 2009 Nov; 132(11): 3165–3174. Published online 2009 Aug 31. doi: 10.1093/brain/awp221
PMCID:
PMC2768660
ArticlePubReaderPDF–778KCite
20.
FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency
Daniele Ghezzi, Ann Saada, Pio D'Adamo, Erika Fernandez-Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani
Am J Hum Genet. 2008 Sep 12; 83(3): 415–423. Published online 2008 Sep 5. doi: 10.1016/j.ajhg.2008.08.009
PMCID:
PMC2556431
ArticlePubReaderPDF–1.2MCite

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