Page 35 - Read Online
P. 35
Page 10 of 11 Agresti et al. J Transl Genet Genom 2018;2:9 I http://dx.doi.org/10.20517/jtgg.2018.05
11. Chiabrando D, Mercurio S, Tolosano E. Heme and erythropoiesis: more than a structural role. Haematologica 2014;99:973-83.
12. Miller WL, Bose HS. Early steps in steroidogenesis: intracellular cholesterol trafficking. J Lipid Res 2011;52:2111-35.
13. Ah Mew N, Simpson KL, Gropman AL, Lanpher BC, Chapman KA, Summar ML. Urea Cycle Disorders Overview. In: Adam MP,
Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA):
University of Washington, Seattle; 2003.
14. Giorgi C, Agnoletto C, Bononi A, Bonora M, De Marchi E, Marchi S, Missiroli C, Patergnani S, Poletti F, Rimessi A, Suski JM,
Wieckowski MR, Pinton P. Mitochondrial calcium homeostasis as potential target for mitochondrial medicine. Mitochondrion
2012;12:22-85.
15. Cadenas E, Davies KJ. Mitochondrial free radical generation, oxidative stress, and aging. Free Radic Biol Med 2000;29:222-30.
16. Arnoult D, Soares F, Tattoli I, Girardin SE. Mitochondria in innate immunity. EMBO Rep 2011;12:901-10.
17. Kuwabara M, Asanuma T, Niwa K, Inanami O. Regulation of cell survival and death signals induced by oxidative stress. J Clin Biochem
Nutr 2008;43:51-7.
18. Nass MM, Nass S. Intramitochondrial fibers with DNA characteristics. I. Fixation and electron staining reactions. J Cell Biol
1963;19:593-611.
19. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH,
Smith AJH, Staden R, Young IG. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
20. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference
sequence for human mitochondrial DNA. Nat Genet 1999;23:147.
21. Taanman JW. The mitochondrial genome: structure, transcription, translation and replication. Biochim Biophys Acta 1999;1410:103-23.
22. Nicholls TJ, Minczuk M. In D-loop: 40 years of mitochondrial 7S DNA. Exp Gerontol 2014;56:175-81.
23. Kuhl I, Miranda M, Posse V, Milenkovic D, Mourier A, Siira SJ, Bonekamp NA, Neumann U, Filipovska A, Polosa PL, Gustafsson
CM, Larsson NG. POLRMT regulates the switch between replication primer formation and gene expression of mammalian mtDNA. Sci
Adv 2016;2:e1600963.
24. Chacinska A, Koehler CM, Milenkovic D, Lithgow T, Pfanner N. Importing mitochondrial proteins: machineries and mechanisms. Cell
2009;138:628-44.
25. Schon EA, DiMauro S. Medicinal and genetic approaches to the treatment of mitochondrial disease. Curr Med Chem 2003;10:2523-33.
26. United Mitochodnrial Disease Foundation. Types of Mitochondrial Diseases. Available from: http://www.umdf.org/types/ [Last access
on 28 Jun 2018].
27. Chinnery PF. Mitochondrial Disorders Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,
Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2000.
28. Greaves LC, Taylor RW. Mitochondrial DNA mutations in human disease. IUBMB Life 2006;58:143-51.
29. Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders--past, present and future. Biochim
Biophys Acta 2004;1659:115-20.
30. Saneto RP, Sedensky MM. Mitochondrial disease in childhood: mtDNA encoded. Neurotherapeutics 2013;10:199-211.
31. Rossignol R, Faustin B, Rocher C, Malgat M, Mazat JP, Letellier T. Mitochondrial threshold effects. Biochem J 2003;370:751-62.
32. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is
associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990;61:931-7.
33. El-Hattab AW, Scaglia F. Mitochondrial cardiomyopathies. Front Cardiovasc Med 2016;3:25.
34. Chinnery PF, Hudson G. Mitochondrial genetics. Br Med Bull 2013;106:135-59.
35. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A,
Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S. MELAS: clinical features,
biochemistry, and molecular genetics. Ann Neurol 1992;31:391-8.
36. DiMauro S, Hirano M. MERRF. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003.
37. DiMauro S, Hirano M. MELAS. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.
GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001.
38. Marin S, Haas R. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). In: Saneto RP, Parikh S,
Cohen BH, editors. Mitochondrial Case Studies: Underlying Mechanisms of Disease. Elsevier; 2016. p.13-29.
39. Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S. Respiration-deficient cells are
caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic
acidosis, and strokelike episodes (MELAS). Am J Hum Genet 1991;49:590-9.
40. Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S. Longitudinal Changes of mtDNA
A3243G Mutation Load and Level of Functioning in MELAS. Am J Med Genet A 2009;149A:584-7.
41. Mahata B, Bhattacharyya SN, Mukherjee S, Adhya S. Correction of translational defects in patient-derived mutant mitochondria by
complex-mediated import of a cytoplasmic tRNA. J Biol Chem 2005;280:5141-4.
42. Mahata B, Mukherjee S, Mishra S, Bandyopadhyay A, Adhya S. Functional delivery of a cytosolic tRNA into mutant mitochondria of
human cells. Science 2006;314:471-4.
43. Kolesnikova OA, Entelis NS, Jacquin-Becker C, Goltzene F, Chrzanowska-Lightowlers ZM, Lightowlers RN, Martin RP, Tarassov
I. Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF
syndrome in cultured human cells. Hum Mol Genet 2004;13:2519-34.