Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Mitochondriales COX3-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Referenzen:

1.

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

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2.

Hanna MG et al. (1998) Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

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3.

Seneca S et al. (1996) A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.

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4.

Keightley JA et al. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria.

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5.

Oostra RJ et al. (1995) Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings.

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6.

Suzuki H et al. (1988) Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III.

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7.

Temperley RJ et al. (2003) Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.

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8.

Horváth R et al. (2002) Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

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9.

Tiranti V et al. (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

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10.

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

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11.

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.

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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.

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25.

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

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26.

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

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27.

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.

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28.

Orphanet article

Orphanet ID 123520 external link
29.

NCBI article

NCBI 4514 external link
30.

OMIM.ORG article

Omim 516050 external link
Update: 14. August 2020
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