Alterations of sirtuins in mitochondrial cytochrome c-oxidase deficiency. [PDF]
PLoS ONE, 2017 Sirtuins are NAD+ dependent deacetylases, which regulate mitochondrial energy metabolism as well as cellular response to stress. The NAD/NADH-system plays a crucial role in oxidative phosphorylation linking sirtuins and the mitochondrial respiratory ...
Arne Björn Potthast +3 more
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Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report [PDF]
Frontiers in Cellular Neuroscience, 2023 COA8-related leukoencephalopathy is a recently described rare cavitating leukoencephalopathy caused by biallelic variants in the COA8 gene. Clinically, it presents heterogeneously and usually follows a bi-phasic clinical course with a period of acute ...
Alexandra Chapleau +13 more
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A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up [PDF]
Case Reports in MedicineInfantile reversible cytochrome c oxidase (COX) deficiency myopathy is a mitochondrial rare disease with onset age of first day to three months with symptoms of generalized muscle weakness and severe hypotonia. Despite its initial serious conditions, the
Yu-Ting Ma +4 more
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Copper and bezafibrate cooperate to rescue cytochrome
Orphanet Journal of Rare Diseases, 2012 Background Mutations in SCO2 cause cytochrome c oxidase deficiency (COX) and a fatal infantile cardioencephalomyopathy. SCO2 encodes a protein involved in COX copper metabolism; supplementation with copper salts rescues the defect in patients’ cells ...
Casarin Alberto +16 more
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COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes
Stem Cell Research & Therapy, 2023 Background Cardiac remodeling is the initiating factor for the development of heart failure, which can result from various cardiomyopathies. Cytochrome c oxidase subunit 6A2 (COX6A2) is one of the components of cytochrome c oxidase that drives oxidative ...
Mengqi Jiang +8 more
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Stem Cell Research, 2021 COX6A2 protein is a structural subunit of Complex IV (CIV/Cytochrome c oxidase/COX) in the mitochondrial respiratory chain. It is mainly expressed in the heart and skeletal muscle, also in some interneurons, regulating the assembly and catalytic activity
Chengwen Hang +9 more
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Clinicopathological Features of Telbivudine-Associated Myopathy. [PDF]
PLoS ONE, 2016 Telbivudine, a thymidine nucleoside analog, is a common therapeutic option for chronic hepatitis B infection. While raised serum creatine kinase is common, myopathy associated with telbivudine is rare.
Tomica Ambang +4 more
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Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals
Frontiers in Cell and Developmental Biology, 2022 The redox activity of cytochrome c oxidase (COX), the terminal oxidase of the mitochondrial respiratory chain (MRC), depends on the incorporation of iron and copper into its catalytic centers.
Michele Brischigliaro +11 more
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Aerobic Respiration and Its Regulation in the Metal Reducer Shewanella oneidensis
Frontiers in Microbiology, 2021 Shewanella oneidensis MR-1 is a facultative anaerobe known for its ability to reduce metal oxides. Anaerobic respiration, especially metal reduction, has been the subject of extensive research. In contrast, S.
Kristen Bertling +2 more
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Nature Communications, 2023 Human MutT Homolog 1 (MTH1) is a nucleotide pool sanitization enzyme that hydrolyzes oxidized nucleotides to prevent their mis-incorporation into DNA under oxidative stress. Expression and functional roles of MTH1 in platelets are not known.
Yangyang Ding +15 more
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