Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"COX deficiency"”.
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Identification and characterisation of new factors and mechanisms regulating human cytochrome c oxidase biogenesis
… complex IV (CIV) or cytochrome c oxidase (COX) is an intricate and highly regulated process in which the three-core mitochondrial DNA (mtDNA) encoded subunits assemble in a coordinated way with the remaining eleven supernumerary nuclear DNA (nDNA) encoded subunits. This process requires a …
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Assembly of cytochrome c oxidase: the role of hSco1p and hSco2p
COX deficiency in human presents a plethora of phenotypes which is not surprising given the complexity of the enzyme structure and the multiple factors and many steps required for its assembly. A functional COX requires three mitochondrially encoded subunits (Cox1p, Cox2p and Cox3p), at least 10 …
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Why do allelic variants of the mitochondrial chaperone SCO1 cause clinically heterogeneous forms of disease? A mouse model and proximity ligation study
… has an essential role in cytochrome c oxidase (COX) assembly and the regulation of cellular copper homeostasis. While SCO1 mutations result in clinically heterogenous forms of disease with fatal, neonatal outcomes, it remains unclear why allelic variants unique to each SCO1 pedigree primarily …