Disorders of the electron transport chain

Journal of Inherited Metabolic Disease

Volumn 19, Issue 4, 1996, Pages 463-469

  Adams, P L ^a   Turnbull, D M ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

BIOCHEMISTRY; CELL NUCLEUS; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; GENOME; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY DIAGNOSIS; LACTIC ACIDOSIS; MITOCHONDRION; MOLECULAR GENETICS; MUSCLE DISEASE; RESPIRATORY CHAIN;

EID: 0029785318     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799107     Document Type: Conference Paper

References (26)

1. 1-ATPase from bovine heart mitochondria. Nature 320: 621-628.
2. Ackrell BAC, Johnson MK, Ginsalus RP, Cecchini G (1992) Structure and function of succinate dehydrogenase and fumarate reductase. In Muller F, ed. Biochemistry of Flavoenzymes. Boca Raton, FL: CRC Press, 229-297.
3. Anderson S, Bankier AT, Barrell BG, et al (1981) Sequence and organisation of the human mitochondrial genome. Nature 290: 457-465.
4. Birch-Machin M, Jackson S, Turnbull DM (1993) Skeletal muscle mitochondrial dysfunction. In: Lash LH, Jones DP, ed. Methods in Toxicology. New York: Academic Press, 51-69.
5. Friedrich T, Steinmüller, Weiss H (1995) The proton pumping respiratory complex I of bacteria and mitochondria and its homologue in chloroplasts. FEBS Lett 367: 107-111.
6. Haltia T, Saraste M, Wikstrom M (1991) Subunit III of cytochrome c oxidase is not involved in proton translocation: a site-directed mutagenesis study. EMBO J 10: 2015-2021.
7. Hammans SR, Sweeney MG, Brockington M, Morgan-Hughes JA, Harding AE (1991) Mitochondrial encephalomyopathies: molecular genetic diagnosis from blood samples. Lancet 337: 1311-1313.
8. Hofhaus G, Weiss H, Leonard K (1991) Electron microscopic analysis of the peripheral and membrane parts of mitochondrial NADH dehydrogenase (complex I). J Mol Biol 221: 1027-1043.
9. Holt IF, Harding AE, Morgan-Hughes JA (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331: 717-719.
10. Iwata S, Ostermeier C, Ludwig B, Michel H (1995) Structure at 2.8Å resolution of cytochrome c oxidase from Paracoccus denitrificans. Nature 376: 660-669.
11. Jackson M, Schaefer J, Johnson M, Morris A, Turnbull D, Bindoff L (1995) Presentation and clinical investigation of mitochondrial respiratory disease: a study of 51 patients. Brain 118: 339-357.
12. Johns DR (1995) Mitochondrial DNA and disease. N Engl J Med 333: 638-644.
13. Johnson M, Bindoff L, Turnbull DM (1993) Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Ann Neurol 33: 28-35.
14. Kadenbach B, Kuhn-Nentwig L, Buge U (1987) Evolution of a regulatory enzyme: cytochrome c oxidase (complex IV). Curr Top Bioenerg 15: 113-161.
15. Lowerson SA, Taylor L, Briggs HL, Turnbull DM (1992) Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria. Anal Biochem 205: 372-374.
16. Mitchell P (1961) Coupling of phosphorylation to electron and hydrogen transfer by a chemiosmotic type of mechanism. Nature 191: 144-148.
17. Mitchell P (1976) Possible mechanisms of proton motive function of cytochrome systems. J Theor Biol 62: 327-367.
18. Morris AAM, Jackson MJ, Bindoff LA, Turnbull DM (1995) The investigation of mitochondrial respiratory chain disease. J R Soc Med 88: 217P-222P.
19. Piccolo G, Banfi P, Azan G, et al (1991) Biological markers of oxidative stress in mitochondrial myopathies with chronic progressive external ophthalmoplegia. J Neurol Sci 105: 57-60.
20. Santorelli FM, Shanske S, Macaya , De Vivo DC, DiMauro S (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 34: 827-834.
21. Schulte U, Fecke W, Krüll C, et al (1994) In vivo dissection of the mitochondrial respiratory NADH: ubiquinone oxidoreductase (complex I). Biochim Biophys Acta 1187: 121-124.
22. Senior AE (1988) ATP synthesis by oxidative phosphorylation. Physiol Rev 68: 177-231.
23. Sheratt HSA (1991) Mitochondria: structure and function. Rev Neurol 147: 417-430.
24. 1 complex. J Biol Chem 265: 11409-11412.
25. Tsukihara T, Aoyama H, Yamashita E, et al (1995) Structures of metal sites of oxidized bovine heart cytochrome c oxidase at 2.8Å. Science 269: 1069-1074.
26. Walker JE (1995) Determination of the structures of respiratory chain enzyme complexes from mammalian mitochondria. Biochim Biophys Acta 1271: 221-227.