Results 11 to 20 of about 66,092 (301)

Cytochrome C Oxidase Deficiency and Respiratory Distress

Pediatric Neurology Briefs, 1989
A newborn male presenting with severe respiratory insufficiency, generalized muscle weakness, and lactic acidemia is reported from the Department of Pediatrics, Nagasaki University School of Medicine, Japan.
J Gordon Millichap
doaj   +4 more sources

Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts. [PDF]

PLoS ONE, 2016
Cytochrome-c-oxidase (COX) deficiency is a frequent cause of mitochondrial disease and is associated with a wide spectrum of clinical phenotypes. We studied mitochondrial function and biogenesis in fibroblasts derived from the Cohen (CDs) rat, an animal ...
Aviram Kogot-Levin, Ann Saada, Gil Leibowitz, Devorah Soiferman, Liza Douiev, Itamar Raz, Sarah Weksler-Zangen   +6 more
doaj   +4 more sources

Mitochondrial cytochrome c oxidase deficiency. [PDF]

Clin Sci (Lond), 2016
As with other mitochondrial respiratory chain components, marked clinical and genetic heterogeneity is observed in patients with a cytochrome c oxidase deficiency. This constitutes a considerable diagnostic challenge and raises a number of puzzling questions. So far, pathological mutations have been reported in more than 30 genes, in both mitochondrial
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P.   +7 more
europepmc   +4 more sources

Cytochrome c Oxidase Deficiency [PDF]

Pediatric Research, 1990
Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial DNA (mtDNA). The other 10 subunits are encoded by the nuclear DNA, synthesized in the cytoplasm, and transported into the mitochondria.
Dlmauro S., Lombes A., Nakase H., Mita S., Fabrizi G. M., Tritschler H. -J., Bonilla E., Miranda A. F., Devivo D. C., Schon E. A.   +9 more
  +8 more sources

Cytochrome c oxidase deficiency

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2021
Cytochrome c oxidase (COX) deficiency is characterized by a high degree of genetic and phenotypic heterogeneity, partly reflecting the extreme structural complexity, multiple post-translational modification, variable, tissue-specific composition, and the high number of and intricate connections among the assembly factors of this enzyme.
Brischigliaro M., Zeviani M.
openaire   +3 more sources

Isoforms of Mammalian Cytochrome c Oxidase:Correlation with Human Cytochrome c Oxidase Deficiency [PDF]

Pediatric Research, 1990
We have reviewed the structure, function, and biogenesis of mammalian cytochrome c oxidase, examined the tissue-specific expression of isoforms of cytochrome c oxidase subunits in different mammals, and attempted to correlate the data with our knowledge of cytochrome c oxidase deficiency, illustrated by one particular patient.
N G, Kennaway, R D, Carrero-Valenzuela, G, Ewart, V K, Balan, R, Lightowlers, Y Z, Zhang, B R, Powell, R A, Capaldi, N R, Buist   +8 more
openaire   +2 more sources

Precursors of Cytochrome Oxidase in Cytochrome-Oxidase-Deficient Cells of Neurospora crassa [PDF]

, 1974
Three different cell types of Neurospora crassa deficient in cytochrome oxidase were studied: the nuclear mutant cni-1, the cytoplasmic mutant mi-1 and copper-depleted wild-type cells. * 1.
Ebner E., Ebner E., Edwards D. L., Kiese M., Lansman R., Mason T. L., Mason T. L., Mitchell M. B., Paul K. G., Rifkin M. R., Rubin M. S., Rubin M. S., Schwab A. J., Sebald W., Sebald W., Sebald W., Shakespeare P. G., Warburg O., Weiss H., Werner S., Wohlrab H.   +20 more
core   +1 more source

MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly

Cell Reports, 2015
Cytochrome c oxidase, the terminal enzyme of the respiratory chain, is assembled from mitochondria- and nuclear-encoded subunits. The MITRAC complex represents the central assembly intermediate during this process as it receives imported subunits and ...
Sven Dennerlein, Silke Oeljeklaus, Daniel Jans, Christin Hellwig, Bettina Bareth, Stefan Jakobs, Markus Deckers, Bettina Warscheid, Peter Rehling   +8 more
doaj   +1 more source

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant

Frontiers in Genetics, 2023
Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect.
Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi   +16 more
doaj   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source