| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/HUMU.24137 |
| P698 | PubMed publication ID | 33169484 |
| P50 | author | Liesbeth T M Wintjes | Q101477995 |
| P2093 | author name string | David R Thorburn | |
| Omar A Z Tutakhel | |||
| Richard J T Rodenburg | |||
| Mariël A M van den Brand | |||
| Mari Ann Kulseth | |||
| Maina Kava | |||
| Terje R Selberg | |||
| Shanti Balasubramaniam | |||
| Silja Svanstrøm Amundsen | |||
| Lawrence Greed | |||
| Trine Tangeraas | |||
| Yngve T Bliksrud | |||
| Frans A van den Brandt | |||
| Oksana Lapina | |||
| Marion Ybema-Antoine | |||
| P2860 | cites work | NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit. | Q52325987 |
| Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes | Q56760543 | ||
| Human diseases associated with defects in assembly of OXPHOS complexes | Q57175222 | ||
| Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases | Q80087200 | ||
| Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | Q22010737 | ||
| NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain | Q24296926 | ||
| Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency | Q24337613 | ||
| Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations | Q24534079 | ||
| COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae | Q27939371 | ||
| Biochemical diagnosis of mitochondrial disorders | Q27990527 | ||
| Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy | Q28117028 | ||
| Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency | Q28140889 | ||
| Cytochrome c oxidase deficiency | Q28189586 | ||
| Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts | Q28212635 | ||
| Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. | Q35909841 | ||
| Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations | Q36243954 | ||
| Electrophoresis techniques to investigate defects in oxidative phosphorylation | Q37307214 | ||
| MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase | Q38716394 | ||
| Biochemical analyses of the electron transport chain complexes by spectrophotometry. | Q39668094 | ||
| Copper-binding motifs in catalysis, transport, detoxification and signaling | Q41583323 | ||
| Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis. | Q43920593 | ||
| COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. | Q47643939 | ||
| COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. | Q47651551 | ||
| Mitochondrial cytochrome c oxidase biogenesis: Recent developments. | Q47783506 | ||
| Cox16 protein is physically associated with Cox1p assembly intermediates and with cytochrome oxidase | Q47798145 | ||
| Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes | Q48199735 | ||
| P921 | main subject | lactic acidosis | Q1500373 |
| P577 | publication date | 2020-11-10 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | A Novel Variant in COX16 Causes Cytochrome c Oxidase Deficiency, Severe Fatal Neonatal Lactic Acidosis, Encephalopathy, Cardiomyopathy and Liver Dysfunction |
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