BMC Neurology, 2017 Background Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV.
Laura Kytövuori +6 more
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BMC Medical Genomics, 2023 Background The deficiency of cytochrome c oxidase 20 is a rare autosomal recessive mitochondrial disorder characterized by ataxia, dysarthria, dystonia and sensory neuropathy.
Liqing Chen, Yan Liu
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ERJ Open Research, 2021 Oxidative stress from innate immune cells is a driving mechanism that underlies COPD pathogenesis. Individuals with α-1 antitrypsin (AAT) deficiency (AATD) have a dramatically increased risk of developing COPD. To understand this further, the aim of this
Padraig Hawkins +11 more
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Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding. [PDF]
, 2016 Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn ...
Gane, Louise W +8 more
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The effect of maternal iron deficiency on zinc and copper levels and on genes of zinc and copper metabolism during pregnancy in the rat [PDF]
, 2019 Fe deficiency is relatively common in pregnancy and has both short- and long-term consequences. However, little is known about the effect on the metabolism of other micronutrients.
Cottin, Sarah C. +5 more
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Neuropathologic Aspects of Cytochrome C Oxidase Deficiency
Brain Pathology, 2000 Cytochrome c oxidase (COX) deficiency is an important cause of myopathy or encephalomyopathy. Considering the structural complexity of COX, its dual genetic control, and the several nuclear genes needed for its proper assembly, the phenotypic heterogeneity is not surprising.
K, Tanji, E, Bonilla
openaire +3 more sources
Role of Copper on Mitochondrial Function and Metabolism
Frontiers in Molecular Biosciences, 2021 Copper is essential for life processes like energy metabolism, reactive oxygen species detoxification, iron uptake, and signaling in eukaryotic organisms.
Lina M. Ruiz +4 more
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Transcriptional regulation of copper metabolism genes in the liver of fetal and neonatal control and iron-deficient rats [PDF]
, 2014 Acknowledgments The authors’ work is supported by Scottish Government (Rural and Environmental Scientific and Analytical Services). We are grateful to Ms Val Stevens for analytical and technical assistance and to the Biological Resource Facility staff ...
Hayes, Helen +3 more
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A differential genome-wide transcriptome analysis : impact of cellular copper on complex biological processes like aging and development [PDF]
, 2012 The regulation of cellular copper homeostasis is crucial in biology. Impairments lead to severe dysfunctions and are known to affect aging and development.
Grimm, Carolin +3 more
core +6 more sources
The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding. [PDF]
, 2006 International audienceSco1 is a metallochaperone that is required for copper delivery to the Cu(A) site in the CoxII subunit of cytochrome c oxidase. The only known missense mutation in human Sco1, a P174L substitution in the copper-binding domain, is ...
Cobine, Paul A +6 more
core +3 more sources