Vai ai contenuti. | Spostati sulla navigazione | Spostati sulla ricerca | Vai al menu | Contatti | Accessibilità

| Crea un account

Trevisson, Eva (2008) Genetic bases and experimental models for the study of inherited metabolic diseases. [Tesi di dottorato]

Full text disponibile come:

[img]
Anteprima
Documento PDF
13Mb

Abstract (inglese)

Inherited metabolic diseases are genetic disorders caused by the alteration of a specific metabolic reaction. We focused on the study of the genetic bases of two main types of metabolic disorders, mitochondrial diseases and urea cycle defects. In this work, we report the characterization of novel genes that are potentially involved in mitochondrial respiratory chain defects: we identified three novel COX-assembly genes required for Cytochrome c Oxidase (COX) biogenesis and two novel genes involved in coenzyme Q biosynthesis.These genes represent new candidates to be screened in patients with isolated COX defect or primary coenzyme Q deficiency, without mutations in other known genes. We then studied a family affected by coenzyme Q deficiency and found a homozygous mutation in the COQ2 gene, this is the first report of a mutation in a ubiquinone biosynthetic gene. Moreover, we developed a C.elegans model of COX defect in order to study the pathogenesis of this disease. Finally, we performed a mutational screening in a cohort of patients affected by argininosuccininc aciduria and developed a functional complementation assay using S.cerevisiae strain to prove the pathogenesis of the novel mutations; we also established some genotype-phenotype correlations.


Statistiche Download - Aggiungi a RefWorks
Tipo di EPrint:Tesi di dottorato
Relatore:Salviati, Leonardo
Correlatore:Salviati, Leonardo
Dottorato (corsi e scuole):Ciclo 20 > Scuole per il 20simo ciclo > MEDICINA DELLO SVILUPPO E SCIENZE DELLA PROGRAMMAZIONE > MALATTIE RARE
Data di deposito della tesi:Gennaio 2008
Anno di Pubblicazione:Gennaio 2008
Parole chiave (italiano / inglese):Mitochondrial diseases, mitochondrial respiratory chain, cytochrome c oxidase, coenzyme Q10, argininosuccinic aciduria, argininosuccinic lyase
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/03 Genetica medica
Struttura di riferimento:Dipartimenti > pre 2012 - Dipartimento di Pediatria
Codice ID:175
Depositato il:30 Ott 2008
Simple Metadata
Full Metadata
EndNote Format

Bibliografia

I riferimenti della bibliografia possono essere cercati con Cerca la citazione di AIRE, copiando il titolo dell'articolo (o del libro) e la rivista (se presente) nei campi appositi di "Cerca la Citazione di AIRE".
Le url contenute in alcuni riferimenti sono raggiungibili cliccando sul link alla fine della citazione (Vai!) e tramite Google (Ricerca con Google). Il risultato dipende dalla formattazione della citazione.

1. Abu-Abed M, Turner MA, Vallè e F, Simpson A, Slingsby C, Howell PL. (1997) Structural comparison of the enzymatically active and inactive forms of delta crystallin and the role of histidine 91. Biochemistry 36:14012-14022. Cerca con Google

2. Adams PL, Lightowlers RN, Turnbull DM (1997) Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann. Neurol. 41: 268-270. Cerca con Google

3. Aeby A, Sznajer Y, Cavè H, Rebuffat E, Van Coster R, Rigal O, Van Bogaert P. (2007) Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency. J Inherit Metab Dis. 30:827. Cerca con Google

4. Allan JD, Cusworth DC, Dent CE, Wilson VK (1958) A disease, probably hereditary, characterised by severe mental deficiency and a constant gross abnormality of amino acid metabolism. Lancet I:182-187. Cerca con Google

5. Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed MS, Imtiaz F, Meyer BF. (2005) Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis 28:877-883. Cerca con Google

6. Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG (2003a) Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum. Mol. Genet. 12: 2693-2702. Cerca con Google

7. Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA (2003b) Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet. 72: 101-114. Cerca con Google

8. Appelgarth D, Davidson A, Perry L, Podon S, Chrichton J, Flandwick D (1975) Argininosuccinic acidemia in a healthy individual detected by a urine screening program. Clin Chem 21:950-951. Cerca con Google

9. Arnesano F, Balatri E, Banci L, Bertini I, Winge DR. (2005) Folding studies of Cox17 reveal an important interplay of cysteine oxidation and copper binding. Structure. 13:713-22. Cerca con Google

10. Artuch, R., Brea-Calvo, G., Briones, P., Aracil, A., Galvan, M., Espinos, C., Corral,J., Volpini, V., Ribes, A. and Andreu, A.L. et al. (2006) Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation. J. Neurol. Sci, 246, 153-158. Cerca con Google

11. Baba, S.W., Belogrudov, G.I., Lee, J.C., Lee, P.T., Strahan, J., Shepherd, J.N., Clarke, C.F. (2004). Yeast coq5-methyltransferase is required for stability of other polypeptides involved in coenzyme q biosynthesis. J. Biol. Chem. 279, 10052-10059. Cerca con Google

12. Babcock GT and Wikstrom M. (1992) Oxygen activation and the conservation of energy in cell respiration. Nature 356: 301-309. Cerca con Google

13. Baker NA, Sept D, Joseph S, Holst MJ, McCammon JA. (2001). Electrostatics of nanosystems: application to microtubules and the ribosome. Proc Natl Acad Sci USA 98:10037-10041. Cerca con Google

14. Balamurugan K, Schaffner W. (2006) Copper homeostasis in eukaryotes: teetering on a tightrope. Biochim Biophys Acta. 1763:737-46. Cerca con Google

15. Barbosa P, Wistow GJ, Cialkowski M, Piatigorsky J, O'Brien WE (1991a) Expression of duck lens delta-crystallin cDNAs in yeast and bacterial hosts. Delta 2-crystallin is an active argininosuccinate lyase. J Biol Chem 266: 22319-22322. Cerca con Google

16. Barbosa P, Cialkowski M, O'Brien WE. (1991b) Analysis of naturally occurring and site-directed mutations in the argininosuccinate lyase gene. J Biol Chem 266:5286-5290. Cerca con Google

17. Barros MH, Johnson A, Tzagoloff A. (2004) COX23, a homologue of COX17, is required for cytochrome oxidase assembly. J Biol Chem. 2004 279:31943-7. Cerca con Google

18. Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A. (2005) The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration. J Biol Chem. 280:42627-35. Cerca con Google

19. Bastone A, Diomede L, Parini R, Carnevale F, Salmona M. (1990) Determination of argininosuccinate lyase and arginase activities with an amino acid analyzer. AnalBiochem 191:384-389. Cerca con Google

20. Beadle GW. (1950) Biochemical aspects of genetics. Fed Proc.92:512-6. Cerca con Google

21. Beers J, Glerum DM, Tzagoloff A (1997) Purification, characterization, andlocalization of yeast Cox17p, a mitochondrial copper shuttle. J Biol Chem. 272:33191-6. Cerca con Google

22. Belogrudov, G.I., Lee, P.T., Jonassen, T., Hsu, A.Y., Gin, P., Clarke, C.F. (2001).Yeast Coq4 encodes a mitochondrial protein required for coenzyme Q synthesis. Arch. Biochem. Biophys. 392, 48-58. Cerca con Google

23. Bernardi P, Scorrano L, Colonna R, Petronilli V, Di Lisa F. (1999) Mitochondria and cell death. Mechanistic aspects and methodological issues. Eur J Biochem 264, 687-701. Cerca con Google

24. Boitier E, Degoul F, Desguerre I, Charpentier C, Francois D, Ponsot G, Diry M,Rustin P, Marsac C (1998) A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J Neurol Sci 156:41-46. Cerca con Google

25. Boyd D, Beckwith J. (1990) The role of charged amino acids in the localization of secreted and membrane proteins. Cell.62:1031-3. Cerca con Google

26. Brandt U. and Trumpower B. (1994) The protonmotive Q cycle in mitochondria and bacteria. Crit. Rev. Biochem. Mol. Biol. 29:165-197 Cerca con Google

27. Brenner S. (1974) The genetics of Caenorhabditis elegans. Genetics. 77:71-94. Cerca con Google

28. Brusilov SW and Horwich AL (2001) Urea cycle enzymes. In Scriver CR, Beaudet AL, Shy WS and Valle D editors. The Molecular and Metabolic Bases of Inherited Diseases Vol 2, 8th edition. New York: McGraw-Hill. p 1909-1964. Cerca con Google

29. Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O (2000) Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 8:837-45. Cerca con Google

30. Carlson CG, Barrientos A, Tzagoloff A, Glerum DM (2003) COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae. J Biol Chem. 278:3770-5. Cerca con Google

31. Cartegni L, Shern LC, Krainer AR. (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298. Cerca con Google

32. Chen JM, Chuzhanova N, Stenson PD, Ferec C, Cooper DN (2005) Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat 25:207-21. Cerca con Google

33. Chinnery PF, Turnbull DM (2001) Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 106:94-101. Cerca con Google

34. Claros MG. (1995) MitoProt, a Macintosh application for studying mitochondrial proteins. Comput Appl Biosci.11:441-7. Cerca con Google

35. Collins FS. (1990) Identifying human disease genes by positional cloning. HarveyLect. 86:149-64. Cerca con Google

36. Dalakas MC, Illa I, Pezeshkpour GH, Laukaitis JP, Cohen B, Griffin JL. (1990) Mitochondrial myopathy caused by long-term zidovudine therapy. N Engl J Med. 322:1098-105. Cerca con Google

37. Dillin A, Hsu AL, Arantes-Oliveira N, Lehrer-Graiwer J, Hsin H, Fraser AG, Kamath RS, Ahringer J, Kenyon C. (2002) Rates of behavior and aging specified by mitochondrial function during development. Science. 298:2398-401. Cerca con Google

38. DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD. (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol.22:498-506. Cerca con Google

39. DiMauro S and De Vivo DC (1996) Genetic heterogeneity in Leigh syndrome. Ann.Neurol. 40: 5-7. Cerca con Google

40. DiMauro S. (2004a) Mitochondrial diseases. Biochim Biophys Acta. 1658:80-8. Cerca con Google

41. DiMauro S, Tay S, Mancuso M (2004b) Mitochondrial encephalomyopathies:diagnostic approach. Ann.N.Y.acad.Sci. 1011:217-231. Cerca con Google

42. DiMauro S, Quinzii C, Hirano M (2007) Mutations in coenzyme Q10 biosynthetic genes. J Clin Invest. 117:587-9. Cerca con Google

43. Dolezal P, Likic V, Tachezy J, Lithgow T. (2006) Evolution of the molecular machines for protein import into mitochondria. Science. 313:314-8. Cerca con Google

44. Echtay KS, Winkler E, Klingenberg M. (2000) Coenzyme Q is an obligatory cofactor for uncoupling protein function. Nature. 408:609-13. Cerca con Google

45. Echtay KS, Roussel D, St-Pierre J, Jekabsons MB, Cadenas S, Stuart JA, Harper JA, Roebuck SJ, Morrison A, Pickering S, Clapham JC, Brand MD (2002) Superoxide activates mitochondrias uncoupling proteins. Nature 415, 96-9. Cerca con Google

46. Fontaine E, Ichas F, Bernardi P. (1998) A ubiquinone-binding site regulates the mitochondrial permeability transition pore. J Biol Chem. 273:25734-40. Cerca con Google

47. Forsgren, M., Attersand, A., Lake, S., Grunler, J., Swiezewska, E., Dallner, G., Climent, I. (2004). Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ. Biochem. J. 382, 519-526. Cerca con Google

48. Gaisne M, Bonnefoy N. (2006) The COX18 gene, involved in mitochondrial biogenesis, is functionally conserved and tightly regulated in humans and fission yeast. FEMS Yeast Res. 6:869-82. Cerca con Google

49. Garesse R, Vallejo CG (2001) Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes. Gene 263, 1-16. Cerca con Google

50. Garrod AE, Clarke JW. (1907) A New Case of Alkaptonuria. Biochem J. 2:217-20. Cerca con Google

51. Gibson QH. (1948) The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia. Biochem J. 42:13-23. Cerca con Google

52. Gietz RD, Woods RA. (2006) Yeast transformation by the LiAc/SS Carrier DNA/PEG method. Methods Mol Biol. 313:107-20. Cerca con Google

53. Gin P. and Clarke C.F. (2005) Genetic Evidence for a Multi-subunit Complex in Coenzyme Q Biosynthesis in Yeast and the Role of the Coq1 Hexaprenyl Diphosphate Synthase. JBC 280:2676-2681. Cerca con Google

54. Glerum DM, Yanamura W, Capaldi RA, Robinson BH (1988). Characterization of cytochrome c oxidase mutants in human fibroblasts. FEBS Lett. 236: 100-104. Cerca con Google

55. Glerum DM, Shtanko A, Tzagoloff A (1996) Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase. J. Biol.Chem. 271:14504-14509. Cerca con Google

56. Glerum, D.M., and Tzagoloff, A. (1997). Submitochondrial distributions and stabilities of subunits 4, 5, and 6 of yeast cytochrome oxidase in assembly defective mutants. FEBS Lett. 412:410- 414. Cerca con Google

57. Grad LI, Sayles LC, Lemire BD. (2005) Introduction of an additional pathway for lactate oxidation in the treatment of lactic acidosis and mitochondrial dysfunction in Caenorhabditis elegans. Proc Natl Acad Sci U S A.102:18367-72. Cerca con Google

58. Herrmann JM, Neupert W, Stuart RA (1997) Insertion into the mitochondrial inner membrane of a polytopic protein, the nuclearencoded Oxa1p. EMBO J.16:2217-2226. Cerca con Google

59. Hill HZ, Goodman SI.(1974) Detection of inborn errors of metabolism. III. Defects in urea cycle metabolism. Clin Genet. 6:79-81. Cerca con Google

60. Hirokawa T, Boon-Chieng S, Mitaku S. (1998) SOSUI: classification and secondary structure prediction system for membrane proteins. Bioinformatics 14:378-9. Cerca con Google

61. Hiser L, Di Valentin M, Hamer AG, Hosler JP. (2000) Cox11p is required for stable formation of the Cu(B) and magnesium centers of cytochrome c oxidase. J Biol Chem. 275:619-23. Cerca con Google

62. Horng YC, Cobine PA, Maxfield AB, Carr HS, Winge DR. (2004) Specific copper transfer from the Cox17 metallochaperone to both Sco1 and Cox11 in the assembly of yeast cytochrome C oxidase. J Biol Chem. 279:35334-40. Cerca con Google

63. Howell PL, Turner MA, Christodoulou J, Walker DC, Craig HJ, Simard LR, Ploder L, McInnes RR. (1998) Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site. J Inherit Metab Dis 21 (Suppl 1):72-85. Cerca con Google

64. Indiveri C., Tonazzi A. and Palmieri F. (1992) Identification and purification of the ornithine/citrulline carrier from rat liver mitochondria. Eur. J. Biochem. 207: 449-454. Cerca con Google

65. Inoue K (2005) PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6: 1-16. Cerca con Google

66. Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J (2001). Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 57: 1440-1446. Cerca con Google

67. Johnstone IL. (1999) Molecular biology. In: C. elegans - A Practical Approach.Edited by Hope, I.A. Oxford University Press, London. Cerca con Google

68. Jonassen, T., Clarke, C.F. (2000). Isolation and functional expression of human COQ3, a gene encoding a methyltransferase required for ubiquinone biosynthesis. J.Biol. Chem. 275, 12381-12387. Cerca con Google

69. Jones, M.E. (1980) Pyrimidine nucleotide biosynthesis in animals: genes, enzymes,and regulation of UMP biosynthesis. Annu. Rev. Biochem., 49,253-279. Cerca con Google

70. Kadenbach B, Jarausch J, Hartmann R, Merle P (1983) Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure. Anal Biochem 129:517-21. Cerca con Google

71. Kalen A, Appelkvist EL, Chojnacki T, Dallner G (1990) Nonaprenyl- 4- hydroxybenzoate transferase, an enzyme involved in ubiquinone biosynthesis, in the endoplasmic reticulum-Golgi system of rat liver. J Biol Chem 265:1158-1164. Cerca con Google

72. Kaletta T, Hengartner MO. (2006) Finding function in novel targets: C. elegans as a model organism. Nat Rev Drug Discov. 5:387-98. Cerca con Google

73. Kamath R.S., Martinez-Campos M., Zipperlen P., Fraser A.G., and Ahringer J. (2001). Effectiveness of specific RNA-mediated interference through ingested double-stranded RNA in Caenorhabditis elegans. Genome Biol, 2:RESEARCH0002. Cerca con Google

74. Katz, J.E., Dlakic, M., Clarke, S. (2003). Automated identification of putative methyltransferases from genomic open reading frames. Mol. Cell. Proteomics 2:525-540. Cerca con Google

75. Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A,Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, TschiedelE, Wanders RJ, Koch HG. (2002) Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis 25:399-410. Cerca con Google

76. Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. (2005) Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 62:317-20. Cerca con Google

77. Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S (2003) Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 60:1206-1208. Cerca con Google

78. Lane P. and Gross S. S. (1999) Cell signaling by nitric oxide. Semin. Nephrol. 19:215-229. Cerca con Google

79. Lanpher B, Brunetti-Pierri N, Lee B. (2006) Inborn errors of metabolism: the flux from Mendelian to complex diseases. Nat Rev Genet 7:449-460. Cerca con Google

80. Larsen PL and Clarke CF. (2002). Extension of life-span in Caenorhabditis elegans by a diet lacking coenzyme Q. Science, 295: 120-3. Cerca con Google

81. Levy HL, Coulombe JT, Shih VE (1980) Newborn urine screening. In: Bickel H, Guthrie R, Hammersen G (eds) Neonatal screening for inborn errors of metabolism. Springer, Berlin Heidelberg New York, pp 89-103. Cerca con Google

82. Lewis J.A. and Fleming J.T. (1995). Basic culture methods. Methods Cell Biol, 48:3-29. Cerca con Google

83. Linnebank M, Homberger A, Rapp B, et al (2000) Two novel mutations (E86A,R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. J Inherit Metab Dis 23: 308 312. Cerca con Google

84. Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG. (2002) Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a complete structure of the human ASL gene. Hum Genet 111:350-359. Cerca con Google

85. Littarru GP and Tiano L. (2007) Bioenergetic and antioxidant properties of coenzyme Q10: recent developments. Mol Biotechnol. 37:31-7. Cerca con Google

86. López LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M.(2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 79:1125-9. Cerca con Google

87. López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P (2007). Missense mutation of the COQ2 gene causes defects of bioenergetics Cerca con Google

88. and de novo pyrimidine synthesis. Hum Mol Genet. 16:1091-7. Cerca con Google

89. Maher AD, Kuchel PW, Ortega F, de Atauri P, Centelles J, Cascante M. (2003) Mathematical modelling of the urea cycle. A numerical investigation into substrate channelling. Eur J Biochem. 270:3953-61. Cerca con Google

90. Marbois, B., Gin, P., Faull, K.F., Poon, W.W., Lee, P.T., Strahan, J., Shepherd, J.N. and Clarke, C.F. (2005) Coq3 and Coq4 define a polypeptide complex in yeast mitochondria for the biosynthesis of coenzyme Q. J. Biol. Chem. 280:20231-20238. Cerca con Google

91. Mattatall NR, Jazairi J, Hill BC. (2000) Characterization of YpmQ, an accessory protein required for the expression of cytochrome c oxidase in Bacillus subtilis. J Biol Chem. 275:28802-9. Cerca con Google

92. McCurdy PR. (1971) Use of genetic linkage for the detection of female carriers of hemophilia. N Engl J Med. 285:218-9. Cerca con Google

93. McEwen JE, Ko C, Kloeckner-Gruissem B, Poyton RO (1986) Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups. J Biol Chem 261: 11872-11879. Cerca con Google

94. McInnes RR, Shih V, Chilton S. (1984) Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinato lyase deficiency. Proc Nat. Acad Sci USA 81: 4480-4484. Cerca con Google

95. Menichella DM, Goodenough DA, Sirkowski E, Scherer SS, Paul DL (2003) Connexins are critical for normal myelination in the CNS. J Neurosci 23:5963-73. Cerca con Google

96. Michel H, Behr J, Harrenga A, Kannt A. (1998) Cytochrome c oxidase: structure and spectroscopy. Annu Rev Biophys Biomol Struct 27:329-56. Cerca con Google

97. Padilla S, Jonassen T, Jiménez-Hidalgo MA, Fernández-Ayala DJ, López-Lluch G, Marbois B, Navas P, Clarke CF, Santos-Ocaña C. (2004)Demethoxy-Q, an intermediate of coenzyme Q biosynthesis, fails to support respiration in Saccharomyces cerevisiae and lacks antioxidant activity. J Biol Chem. 279:25995-6004. Cerca con Google

98. Pagano MA, Andrzejewska M, Ruzzene M, Sarno S, Cesaro L, Bain J, Elliott M,Meggio F, Kazimierczuk Z, Pinna LA. (2004) Optimization of protein kinase CK2 inhibitors derived from 4,5,6,7-tetrabromobenzimidazole. J Med Chem 47:6239-6247. Cerca con Google

99. Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J, Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA (1999) Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene. Nat Genet 23:333-337. Cerca con Google

100. Paulus H. (1983) The evolutionary history of the ornithine cycle as a determinant of its structure and regulation. Curr. Top. Cell Regul. 22: 177-200. Cerca con Google

101. Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M. (1998) Identification and characterization of human cDNAs specific to BCS1, PET112,SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics. 54:494-504. Cerca con Google

102. Piatigorsky J, O'Brien WE, Norman BL, Kalumuck K, Wistow GJ, Borras T,Nickerson JM, Wawrousek EF (1988) Gene sharing by delta-crystallin and argininosuccinate lyase. Proc Natl Acad Sci USA 85:3479-3483. Cerca con Google

103. Preuss M, Ott M, Funes S, Luirink J, Herrmann JM (2005) Evolution of mitochondrial oxa proteins from bacterial YidC. Inherited and acquired functions of a conserved protein insertion machinery. J Biol Chem. 280:13004-11. Cerca con Google

104. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64:539-541. Cerca con Google

105. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, DiMauro S, Hirano M (2006) A mutation in para-hydroxybenzoatepolyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 78:345-349. Cerca con Google

106. Rae TD, Schmidt PJ, Pufahl RA, Culotta VC, O'Halloran TV. (1999) Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase. Science. 284:805-8. Cerca con Google

107. Rahman S, Hargreaves I, Clayton P, Heales S (2001) Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 139:456-458. Cerca con Google

108. Raijman L. (1974) Citrulline synthesis in rat tissues and liver content of carbamoylphosphate and ornithine. Biochem. J. 138: 225-232. Cerca con Google

109. Rea SL, Ventura N, Johnson TE. (2007) Relationship between mitochondrial electron transport chain dysfunction, development, and life extension in Caenorhabditis elegans. PLoS Biol.5:e259. Cerca con Google

110. Rep M, and Grivell LA. (1996) The role of protein degradation in mitochondrial function and biogenesis. Curr. Genet. 30: 367-380. Cerca con Google

111. Rezzonico R, Burger D, Dayer JM (1998) Direct contact between T lymphocytes and human dermal fibroblasts or synoviocytes down-regulates types I and III collagen production via cell-associated cytokines. J Biol Chem. 273:18720-8. Cerca con Google

112. Rigby K, Zhang L, Cobine PA, George GN, Winge DR. (2007) Characterization of the cytochrome c oxidase assembly factor Cox19 of Saccharomyces cerevisiae. J Biol Chem. 282:10233-42. Cerca con Google

113. Rizzuto R, Pinton P, Brini M, Chiesa A, Filippin L, Pozzan T (1999) Mitochondria as biosensors of calcium microdomains. Cell Calcium. 1999 26, 193-9. Cerca con Google

114. Robinson BH (2000) Human cytochrome oxidase deficiency. Pediatr Res.48:581-5. Cerca con Google

115. Robinson BH, De Meirleir L, Glerum M, Sherwood G, Becker L. (1987) Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Qreductase and cytochrome oxidase: clues to pathogenesis of Leigh disease. J. Pediatr.110: 216-222. Cerca con Google

116. Rotig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, Lebideau M,Dallner G, Munnich A, Ernster L, Rustin P (2000) Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 356:391-395. Cerca con Google

117. Sääf A, Monné M, de Gier JW, von Heijne G. (1998) Membrane topology of the 60- kDa Oxa1p homologue from Escherichia coli. J Biol Chem. 273:30415-8. Cerca con Google

118. Saiki R, Nagata A, Kainou T, Matsuda H, Kawamukai M. (2005) Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. FEBS J. 272:5606-22. Cerca con Google

119. Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske, Bonilla E, Hays AP, Schon EA, DiMauro S. (2002a) Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch.Neurol. 59:862-5. Cerca con Google

120. Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S, Schon EA, Davidson MM. (2002b) Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J. 363:321-7. Cerca con Google

121. Salviati L, Freehauf C, Sacconi S, DiMauro S, Thoma J, Tsai AC. (2004). Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome. Am J Med Genet A 128:195-198. Cerca con Google

122. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology 65:606-608. Cerca con Google

123. Sampaleanu LM, Vallè F, Thompson GD, Howell PL. (2001) Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. Biochemistry.40:15570-80. Cerca con Google

124. Santos-Ocana C., Do T.Q., Padilla S., Navas P. and Clarke C. F. (2002) Uptake of exogenous coenzyme Q and transport to mitochondria is required for bc1 complex stability in yeast coq mutants. J. Biol. Chem. 277, 10973-10981. Cerca con Google

125. Saracco SA, Fox TD (2002) Cox18p is required for export of the mitochondrially encoded Saccharomyces cerevisiae Cox2p C-tail and interacts with Pnt1p and Mss2p in the inner membrane. Mol Biol Cell. 13:1122-31. Cerca con Google

126. Scaglia F, Carter S, O'Brien WE, Lee B. (2004). Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Molecular Genetics and Metabolism 81: S79-S85. Cerca con Google

127. Schon EA (2000) Mitochondrial genetics and disease, Trends Biochem Sci 25:555-560. Cerca con Google

128. Searcy DG. (2003) Metabolic integration during the evolutionary origin of mitochondria. Cell Res. 13:229-38. Cerca con Google

129. Shoubridge EA (2001). Cytochrome c oxidase deficiency. Am. J. Med. Genet. 106:46-52. Cerca con Google

130. Small I, Peeters N, Legeai F, Lurin C. (2004) Predotar: A tool for rapidly screening proteomes for N-terminal targeting sequences. Proteomics. 4:1581-90. Cerca con Google

131. Souza RL, Green-Willms NS, Fox TD, Tzagoloff A, Nobrega FG (2000) Cloning and characterization of COX18, a Saccharomyces cerevisiae PET gene required for the assembly of cytochrome oxidase, J. Biol. Chem. 275:14898-14902. Cerca con Google

132. Stiernagle, T. (1999). Maintenance of C. elegans. In: C. elegans - A Practical Approach. Edited by Hope, I. A. Oxford University Press, London. Cerca con Google

133. Sulston J.E., Schierenberg E., White J.G., and Thomson J.N. (1983). The embryonic cell lineage of the nematode Caenorhabditis elegans. Dev Biol, 100: 64-119. Cerca con Google

134. Szyrach G, Ott M, Bonnefoy N, Neupert W, Herrmann JM. (2003) Ribosome binding to the Oxa1 complex facilitates co-translational protein insertion in mitochondria.EMBO J. 22:6448-57. Cerca con Google

135. Timmons L, Court DL, Fire A. (2001) Ingestion of bacterially expressed dsRNAs can produce specific and potent genetic interference in Caenorhabditis elegans. Gene.263:103-12. Cerca con Google

136. Timmons L. (2006) Delivery methods for RNA interference in C. elegans. Methods Mol Biol. 351:119-25. Cerca con Google

137. Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63:1609-1621. Cerca con Google

138. Tran UC, Clarke CF. (2007) Endogenous synthesis of coenzyme Q in eukaryotes. Mitochondrion.7 Suppl:S62-71. Cerca con Google

139. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB. (2007) Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat. 28:694-702. Cerca con Google

140. Tsang, W.Y., Sayles, L.C., Grad, L.I., Pilgrim, D.B. and Lemire, B.D. (2001) Mitochondrial respiratory chain deficiency in Caenorhabditis elegans results in developmental arrest and increased lifespan. J. Biol.Chem. 276:32240-32246. Cerca con Google

141. Tsang, W.Y. and Lemire, B.D. (2002) Mitochondrial genome content is regulated during nematode development. Biochem. Biophys. Res. Commun., 291:8-16. Cerca con Google

142. Tsang, W.Y. and Lemire, B.D. (2003) The role of mitochondria in the life of the nematode, Caenorhabditis elegans. Biochim. Biophys. Acta, 1638:91-105. Cerca con Google

143. Tsukihara T, Aoyama H, Yamashita E, Tomizaki T, Yamaguchi H, Shinzawa-Itoh K, Nakashima R, Yaono R, and Yoshikawa S. (1995) Structures of metal sites of oxidized bovine heart cytochrome c oxidase at 2.8 A. Science 269: 1069-1074. Cerca con Google

144. Turner MA, Simpson A, McInnes RR, Howell PL. (1997) Human argininosuccinate lyase: a structural basis for intragenic complementation. Proc Natl Acad Sci U S A.94:9063-8. Cerca con Google

145. Turunen M, Olsson J, Dallner G. (2004) Metabolism and function of coenzyme Q.Biochim Biophys Acta. 1660:171-99. Cerca con Google

146. Tzagoloff A, Dieckmann CL. (1990) PET genes of Saccharomyces cerevisiae.Microbiol Rev 54:211-25. Cerca con Google

147. Uhlenberg B, Schuelke M, Ruschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nurnberg P, Hubner C, Weschke B, Gartner J (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 75:251-60. Cerca con Google

148. Vajo, Z., King, L.M., Jonassen, T., Wilkin, D.J., Ho, N., Munnich, A., Clarke, C.F.,Francomano, C.A. (1999). Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm. Genome 10, 1000-1004. Cerca con Google

149. Valentine JS, Wertz DL, Lyons TJ, Liou LL, Goto JJ, and Gralla EB. (1998) The dark side of dioxygen biochemistry. Curr Opin Chem Biol 2: 253-262. Cerca con Google

150. Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A,Bonnefont JP, Rustin P, Rotig A (2000a) Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67:1104-1109. Cerca con Google

151. Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A (2000b) A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 9:1245-1249. Cerca con Google

152. Van Coster R, Lombres A, De Vivo DC, Chi TL, Dodson WE, Rothman S, Orrechio EJ, Grover W, Berry GT, Schwartz JF, et al. (1991) Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci. 104:97-111. Cerca con Google

153. von Heijne G.(1989) Control of topology and mode of assembly of a polytopic membrane protein by positively charged residues. Nature. 341:456-8. Cerca con Google

154. Walker DC, McCloskey DA, Simard LR, McInnes RR. (1990) Molecular analysis of human argininosuccinate Iyase: Mutant characterization and alternative splicing of the coding region. Proc Natl Acad Sci USA 87:9625-9629. Cerca con Google

155. Walker DC, Christodoulou J, Craig HJ, Simard RL, Ploder L, Howell PL, McInnes RR. (1997) Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles. J Biol Chem 7:6777-6783. Cerca con Google

156. Widhalm K, Koch S, Scheibenreiter S, Knoll E, Colombo JP, Bachmann C,Thalhammer O. (1992) Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Pediatrics 89:1182-4. Cerca con Google

157. Woodsmall RM, Benson DA (1993) Information resources at the National Center for Biotechnology Information. Bull. Med. Libr. Assoc. 81:282-284. Cerca con Google

158. Yoshida M, Muneyuki E, Hisabori T. (2001) ATP synthase--a marvellous rotary engine of the cell. Nat Rev Mol Cell Biol. 2:669-77. Cerca con Google

159. Yu B and Howell PL (2000) Intragenic complementation and the structure and function of argininosuccinate lyase. Cell Mol Life Sci 57:1637-1651. Cerca con Google

160. Yu B, Thompson GD, Yip P, Howell PL, Davidson AR. (2001) Mechanisms for intragenic complementation at the human argininosuccinate lyase locus. Biochemistry 40:15581-90. Cerca con Google

161. Zeviani M, Corona P, Nijtmans L, Tiranti V (1999) Nuclear gene defects in mitochondrial disorders. Ital J Neurol Sci. 20:401-8. Zeviani M, Di Donato S (2004) Mitochondrial disorders. Brain 127:2153-72. Cerca con Google

162. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Brown RM, Shoubridge EA (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 20:337-343. Cerca con Google

Download statistics

Solo per lo Staff dell Archivio: Modifica questo record