Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

Annals of Neurology

Volumn 41, Issue 2, 1997, Pages 268-270

  Adams, Paula L ^a   Lightowlers, Robert N ^a   Turnbull, Douglass M ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; LEIGH DISEASE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STRUCTURAL GENE;

ADULT; BASE SEQUENCE; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; LEIGH DISEASE; MOLECULAR SEQUENCE DATA;

EID: 0031044985     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410410219     Document Type: Article

References (16)

1. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506
2. hoO transformants. Hum Mol Genet 1995;4:2017-2023
3. Lowerson SA, Taylor L, Briggs HL, Turnbull DM. Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria. Anal Biochem 1992;205: 372-374
4. Bindoff LA, Birch-Machin MA, Cartlidge NEF, et al. Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease. J Neurol Sci 1991;104:203-208
5. Chrzanowska-Lightowlers ZMA, Turnbull DM, Bindoff LA, Lightowlers RN. An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase. Biochem Biophys Res Commun 1993;196:328-335
6. Mallet F, Onol G, Mary C, et al. Continuous RT-PCR using AMV-RT and Taq polymerase: characterisation and comparison to uncoupled procedures. Biotechniques 1995;18:678-687
7. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465
8. Lombes A, Nakase H, Tritschler HJ, et al. Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology 1991;41:491-498
9. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299
10. Keightley J, Hoffbuhr K, Burton M, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996;12: 410-416
11. Mita S, Schmidt B, Schon EA, et al. Detection of "deleted" mitochondrial genomes in cytochrome-c-oxidase deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci USA 1989;86:9509-9513
12. Taanman J-W, Burton M, Marusich M, et al. Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome c oxidase subunits in chronic progressive external ophthalmoplegia Biochim Biophys Acta 1996;1315:199-207
13. Bonnefoy N, Kermorgant M, Groudinsky O, et al. Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxalmutation in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 1994;91:11978-11982
14. Altamura N, Capitanio N, Bonnefoy N, et al. The Saccharomyces cerevisiae OXA1 gene is required for the correct assembly of cytochrome c oxidase and oligomycin-sensitive ATP synthase. FEBS Lett 1996;382:111-115
15. Monnat R, Loeb L. Nucleotide sequence preservation of human mtDNA. Proc Natl Acad Sci USA 1985;82:2895-2899
16. Marzuki S, Noer A, Lertrit P, et al. Normal variants of human mtDNA and translation products: the building of a reference data base. Hum Genet 1991;88:139-145