{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMitochondrial cytochrome‐c oxidase subunit 1 (MT‐CO1) is the principal mitochondrially encoded catalytic core of complex IV of the respiratory chain. It is responsible for accepting electrons from cytochrome c and for helping to pump protons across the inner mitochondrial membrane—a process that generates the electrochemical gradient necessary for ATP synthesis. Proper incorporation of MT‐CO1 into the holoenzyme requires a coordinated assembly with both its nuclear‐encoded partner subunits and several dedicated assembly factors; any disturbances in these interactions or in the biogenic pathway can compromise electron transfer and cellular energy production (see, for example."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its central role in oxidative phosphorylation, MT‐CO1 is subject to tight regulation by intracellular signaling and post‐translational modifications. For instance, exposure to pro‐inflammatory factors like tumor necrosis factor α (TNFα) induces tyrosine phosphorylation of MT‐CO1—modifying enzyme activity and reducing ATP output—which, in turn, makes cells susceptible to energy paucity. MT‐CO1 also interacts with various macromolecules such as amyloid‐β peptides and redox regulators, thereby modulating its function and the formation of respiratory supercomplexes. Mutations and deleterious sequence variations in the MT‐CO1 gene—from missense and truncating mutations to large rearrangements—have been linked to a wide range of pathologies including neurodegenerative disorders, cardiac dysfunction from carbon monoxide poisoning, certain cancers, sensorineural hearing loss, reproductive defects, and sepsis. Moreover, studies have linked decreased MT‐CO1 gene amplification with cognitive impairment as observed in Alzheimer’s disease, while other reports highlight that mutation‐triggered deregulation elevates reactive oxygen species and perturbs apoptotic pathways. Collectively, these findings demonstrate that both quantitative and qualitative changes in MT‐CO1 critically influence mitochondrial respiration and cellular homeostasis (e.g.."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "31"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAlterations in MT‐CO1 expression and sequence integrity not only disrupt mitochondrial bioenergetics but also serve as valuable indicators for disease progression and therapeutic response. Changes in transcript and protein levels upon exposure to regulatory cytokines (such as TGFβ) and during aging can influence overall electron transport efficiency and redox balance. Furthermore, the analysis of MT‐CO1 alterations has prognostic significance in several clinical settings, including endometrial and colorectal cancers, as well as in neurological, cardiovascular, and metabolic disorders. These observations underscore the importance of maintaining MT‐CO1 functionality for cellular homeostasis and highlight its potential as a biomarker for mitochondrial dysfunction in diverse human diseases (e.g.."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "32", "end_ref": "39"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Siôn L Williams, Isabelle Valnot, Pierre Rustin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M309232200"}], "href": "https://doi.org/10.1074/jbc.M309232200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14607829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14607829"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Marilena D'Aurelio, Carl D Gajewski, Giorgio Lenaz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl141"}], "href": "https://doi.org/10.1093/hmg/ddl141"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16740593"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16740593"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hue-Tran Hornig-Do, Takashi Tatsuta, Angela Buckermann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/emboj.2011.477"}], "href": "https://doi.org/10.1038/emboj.2011.477"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22252130"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22252130"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sven Dennerlein, Peter Rehling "}, {"type": "b", "children": [{"type": "t", "text": "Human mitochondrial COX1 assembly into cytochrome c oxidase at a glance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.161729"}], "href": "https://doi.org/10.1242/jcs.161729"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25663696"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25663696"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "A M Brown, R K Sheu, R Mohs, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Correlation of the clinical severity of Alzheimer's disease with an aberration in mitochondrial DNA (mtDNA)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Neurosci (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1385/JMN:16:1:41"}], "href": "https://doi.org/10.1385/JMN:16:1:41"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11345519"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11345519"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Poluru L Reddy, Vilasini T Shetty, Diya Dutt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Haematol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.0007-1048.2001.03323.x"}], "href": "https://doi.org/10.1046/j.0007-1048.2001.03323.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11849212"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11849212"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Massoud Houshmand, Ann Gardner, Tore Hällström, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2003.12.002"}], "href": "https://doi.org/10.1016/j.nmd.2003.12.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15036329"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15036329"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Julie E Goodman, Elise D Bowman, Stephen J Chanock, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Arachidonate lipoxygenase (ALOX) and cyclooxygenase (COX) polymorphisms and colon cancer risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Carcinogenesis (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/carcin/bgh260"}], "href": "https://doi.org/10.1093/carcin/bgh260"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15308583"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15308583"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "M Esther Gallardo, Raquel Moreno-Loshuertos, Celia López, et al. "}, {"type": "b", "children": [{"type": "t", "text": "m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20338"}], "href": "https://doi.org/10.1002/humu.20338"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16671096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16671096"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sarika Srivastava, John N Barrett, Carlos T Moraes "}, {"type": "b", "children": [{"type": "t", "text": "PGC-1alpha/beta upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm045"}], "href": "https://doi.org/10.1093/hmg/ddm045"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17341490"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17341490"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Joy Samanich, Christina Lowes, Robert Burk, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.31668"}], "href": "https://doi.org/10.1002/ajmg.a.31668"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17357124"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17357124"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Kelechi N Iheagwara, Stephen R Thom, Clifford S Deutschman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Myocardial cytochrome oxidase activity is decreased following carbon monoxide exposure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbadis.2007.06.002"}], "href": "https://doi.org/10.1016/j.bbadis.2007.06.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17628447"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17628447"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "K S Park, J C Chan, L-M Chuang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Diabetologia (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00125-008-0933-z"}], "href": "https://doi.org/10.1007/s00125-008-0933-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18251004"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18251004"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Won-Kyu Ju, Keun-Young Kim, James D Lindsey, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intraocular pressure elevation induces mitochondrial fission and triggers OPA1 release in glaucomatous optic nerve."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.07-1661"}], "href": "https://doi.org/10.1167/iovs.07-1661"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18469184"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18469184"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Lobelia Samavati, Icksoo Lee, Isabella Mathes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tumor necrosis factor alpha inhibits oxidative phosphorylation through tyrosine phosphorylation at subunit I of cytochrome c oxidase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M801954200"}], "href": "https://doi.org/10.1074/jbc.M801954200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18534980"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18534980"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "E Webb, P Broderick, I Chandler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Cancer (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.bjc.6604805"}], "href": "https://doi.org/10.1038/sj.bjc.6604805"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19050702"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19050702"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Michael Camilleri, Paula Carlson, Alan R Zinsmeister, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Gastrointest Liver Physiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpgi.90650.2008"}], "href": "https://doi.org/10.1152/ajpgi.90650.2008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19147801"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19147801"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Elzbieta Kolaczkowska, Barbara Plytycz, Bernd Arnold, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased cyclooxygenase activity impairs apoptosis of inflammatory neutrophils in mice lacking gelatinase B/matrix metalloproteinase-9."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunology (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1365-2567.2008.02956.x"}], "href": "https://doi.org/10.1111/j.1365-2567.2008.02956.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19175797"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19175797"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Anna M Ray, Kimberly A Zuhlke, Albert M Levin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Prostate (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/pros.20943"}], "href": "https://doi.org/10.1002/pros.20943"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19267350"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19267350"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Anna-Maria G Psarra, Stefan Hermann, George Panayotou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction of mitochondrial thioredoxin with glucocorticoid receptor and NF-kappaB modulates glucocorticoid receptor and NF-kappaB signalling in HEK-293 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem J (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1042/BJ20090107"}], "href": "https://doi.org/10.1042/BJ20090107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19570036"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19570036"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Naoto Chihara, Taku Amo, Akira Tokunaga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA alterations in colorectal cancer cell lines."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Nippon Med Sch (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1272/jnms.78.13"}], "href": "https://doi.org/10.1272/jnms.78.13"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21389643"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21389643"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Małgorzata Rydzanicz, Karolina Cywińska, Maciej Wróbel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Metab (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ymgme.2011.05.004"}], "href": "https://doi.org/10.1016/j.ymgme.2011.05.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21621438"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21621438"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Luis Fernando Hernandez-Zimbron, Jose Luna-Muñoz, Raul Mena, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Amyloid-β peptide binds to cytochrome C oxidase subunit 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0042344"}], "href": "https://doi.org/10.1371/journal.pone.0042344"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22927926"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22927926"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Siwar Baklouti-Gargouri, Myriam Ghorbel, Imen Chamkha, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test Mol Biomarkers (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gtmb.2012.0052"}], "href": "https://doi.org/10.1089/gtmb.2012.0052"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23030649"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23030649"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Rebecca S Arnold, Qian Sun, Carrie Q Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An inherited heteroplasmic mutation in mitochondrial gene COI in a patient with prostate cancer alters reactive oxygen, reactive nitrogen and proliferation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Res Int (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2013/239257"}], "href": "https://doi.org/10.1155/2013/239257"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23509693"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23509693"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "François-Guillaume Debray, Sara Seneca, Michel Gonce, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mitochondrion (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mito.2014.06.003"}], "href": "https://doi.org/10.1016/j.mito.2014.06.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24956508"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24956508"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Mouna Tabebi, Emna Mkaouar-Rebai, Mouna Mnif, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2015.01.151"}], "href": "https://doi.org/10.1016/j.bbrc.2015.01.151"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25701779"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25701779"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Xiumei Zhen, Bailin Wu, Jian Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0132610"}], "href": "https://doi.org/10.1371/journal.pone.0132610"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26225554"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26225554"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Xiaodong Shen, Guoxin Han, Shuoshuo Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association between the T6459C point mutation of the mitochondrial MT-CO1 gene and susceptibility to sepsis among Chinese Han people."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.13746"}], "href": "https://doi.org/10.1111/jcmm.13746"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30207067"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30207067"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Olivia V Poole, Chris M Everett, Sonia Gandhi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mitochondrion (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mito.2019.02.004"}], "href": "https://doi.org/10.1016/j.mito.2019.02.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30743023"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30743023"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Rajnish Kumar Singh, Sunil Kumar Saini, Gopinath Prakasam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Role of ectopically expressed mtDNA encoded cytochrome c oxidase subunit I (MT-COI) in tumorigenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mitochondrion (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mito.2019.07.002"}], "href": "https://doi.org/10.1016/j.mito.2019.07.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31299394"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31299394"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Milena Merlo Pich, Nicola Raule, Lucia Catani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Increased transcription of mitochondrial genes for Complex I in human platelets during ageing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/S0014-5793(03)01520-5"}], "href": "https://doi.org/10.1016/S0014-5793(03"}, {"type": "t", "text": "01520-5) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14759509"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14759509"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Li Xu, Hideaki Miyoshi, Kohji Nishimura, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene expression of isoformic enzymes in arachidonate cyclooxygenase pathway and the regulation by tumor necrosis factor alpha during life cycle of adipocytes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Prostaglandins Other Lipid Mediat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.prostaglandins.2007.01.009"}], "href": "https://doi.org/10.1016/j.prostaglandins.2007.01.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17481558"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17481558"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Takeshi Sugimoto, Tamio Koizumi, Tamotsu Sudo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Correlative expression of cyclooxygenase-1 (Cox-1) and human epidermal growth factor receptor type-2 (Her-2) in endometrial cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Kobe J Med Sci (2007)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18204294"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18204294"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Kinga Księżakowska-Łakoma, Dominika Kulczycka-Wojdala, Andrzej Kulig, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The presence of A5935G, G5949A, G6081A, G6267A, T9540C mutations in MT-CO1 and MT-CO3 genes and other variants of MT-CO1 and MT-CO3 gene fragments in the study population diagnosed with endometrial cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ginekol Pol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5603/GP.a2017.0065"}], "href": "https://doi.org/10.5603/GP.a2017.0065"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28819937"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28819937"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Christoph Hoffmann, Selina Höckele, Lisa Kappler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The effect of differentiation and TGFβ on mitochondrial respiration and mitochondrial enzyme abundance in cultured primary human skeletal muscle cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-017-18658-3"}], "href": "https://doi.org/10.1038/s41598-017-18658-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29335583"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29335583"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "David W Collins, Harini V Gudiseva, Venkata R M Chavali, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.17-23277"}], "href": "https://doi.org/10.1167/iovs.17-23277"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29610859"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29610859"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Shalini Mani, S Narasimha Rao, M V Kranthi Kumar "}, {"type": "b", "children": [{"type": "t", "text": "G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Sci (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jns.2020.116870"}], "href": "https://doi.org/10.1016/j.jns.2020.116870"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32428756"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32428756"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Hanako Aoki, Miwa Higashi, Michi Okita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "n"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": "."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cerebellum (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12311-021-01364-2"}], "href": "https://doi.org/10.1007/s12311-021-01364-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35084690"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35084690"}]}]}]}