Abstract
Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that are not part in but promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. We report a disease-associated mutation in one such subunit, COX6B1. Nuclear-encoded COX genes should be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Amino Acid Substitution
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Base Sequence
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Brain / pathology
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Brain Diseases, Metabolic, Inborn / enzymology*
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Brain Diseases, Metabolic, Inborn / genetics*
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Brain Diseases, Metabolic, Inborn / pathology
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Cell Nucleus / enzymology
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Cell Nucleus / genetics
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Child
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Cytochrome-c Oxidase Deficiency / enzymology*
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Cytochrome-c Oxidase Deficiency / genetics*
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Cytochrome-c Oxidase Deficiency / pathology
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Electron Transport Complex IV / chemistry
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Electron Transport Complex IV / genetics*
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Female
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Genetic Complementation Test
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Haplotypes
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HeLa Cells
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Humans
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Infant
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Magnetic Resonance Imaging
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Male
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Models, Molecular
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Molecular Sequence Data
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Pedigree
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Point Mutation*
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Protein Conformation
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RNA Interference
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Sequence Homology, Amino Acid
Substances
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COX6B1 protein, human
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Electron Transport Complex IV