Mitochondrial COX1 gene

Hosler JP et al. (1993) Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome bo.

Greaves LC et al. (2006) Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.

Namslauer I et al. (2009) A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.

None (1990) Structure and function of cytochrome c oxidase.

Lomax MI et al. (1989) Tissue-specific genes for respiratory proteins.

Hare JF et al. (1980) Isolation, subunit composition, and site of synthesis of human cytochrome c oxidase.

Prochaska LJ et al. (1981) Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide.

Ching E et al. (1982) High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells.

Kadenbach B et al. (1983) Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.

Johns DR et al. (1993) Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

None (1993) The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen.

Brown MD et al. (1992) Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

None (1993) Current issues in the chemistry of cytochrome c oxidase.

Rousseau DL et al. (1993) Proton translocation in cytochrome c oxidase: redox linkage through proximal ligand exchange on cytochrome a3.

None (1993) Mitochondrial diseases: genotype versus phenotype.

Davis RE et al. (1997) Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease.

Gattermann N et al. (1997) Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.

Parfait B et al. (1997) No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.

Hirano M et al. (1997) Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes.

Wallace DC et al. (1997) Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations.

Guan MX et al. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

Jaksch M et al. (1998) A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Yuan H et al. (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

None (1956) On the origin of cancer cells.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.

Fan W et al. (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations.

Temperley R et al. (2010) Hungry codons promote frameshifting in human mitochondrial ribosomes.

Wisløff U et al. (2005) Cardiovascular risk factors emerge after artificial selection for low aerobic capacity.

Bruno C et al. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

Pandya A et al. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

Karadimas CL et al. (2000) Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

Varlamov DA et al. (2002) Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

Acín-Pérez R et al. (2003) An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNA.

Brown MD et al. (1992) A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.

Lucioli S et al. (2006) Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Orphanet article

NCBI article

OMIM.ORG article

Wikipedia article