REFERENCES

1. Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008;134:112-23.

2. Priesnitz C, Becker T. Pathways to balance mitochondrial translation and protein import. Genes Dev 2018;32:1285-96.

3. Battersby BJ, Richter U. Why translation counts for mitochondria - retrograde signalling links mitochondrial protein synthesis to mitochondrial biogenesis and cell proliferation. J Cell Sci 2013;126:4331-8.

4. Smits P, Smeitink J, van den Heuvel L. Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. J Biomed Biotechnol 2010;2010:737385.

5. Lightowlers RN, Rozanska A, Chrzanowska-Lightowlers ZM. Mitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation. FEBS Lett 2014;588:2496-503.

6. Richter R, Pajak A, Dennerlein S, Rozanska A, Lightowlers RN, et al. Translation termination in human mitochondrial ribosomes. Biochem Soc Trans 2010;38:1523-6.

7. Ban N, Beckmann R, Cate JH, Dinman JD, Dragon F, et al. A new system for naming ribosomal proteins. Curr Opin Struct Biol 2014;24:165-9.

8. Van Haute L, Pearce SF, Powell CA, D’Souza AR, Nicholls TJ, et al. Mitochondrial transcript maturation and its disorders. J Inherit Metab Dis 2015;38:655-80.

9. Barchiesi A, Vascotto C. Transcription, processing, and decay of mitochondrial RNA in health and disease. Int J Mol Sci 2019;20.

10. Gonzalez-Serrano LE, Chihade JW, Sissler M. When a common biological role does not imply common disease outcomes: disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases. J Biol Chem 2019;294:5309-20.

11. Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, et al. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816-22.

12. Abbott JA, Francklyn CS, Robey-Bond SM. Transfer RNA and human disease. Front Genet 2014;5:158.

13. Luo S, Valencia CA, Zhang J, Lee NC, Slone J, et al. Biparental inheritance of mitochondrial DNA in humans. Proc Natl Acad Sci U S A 2018;115:13039-44.

14. Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002;347:576-80.

15. El-Hattab AW, Almannai M, Melas SF. GeneReviews (R). In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. Seattle (WA): 1993.

16. DiMauro S, Hirano M. Merrf. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews (R). Seattle (WA): 1993.

17. Sissler M, Gonzalez-Serrano LE, Westhof E. Recent advances in mitochondrial aminoacyl-tRNA synthetases and disease. Trends Mol Med 2017;23:693-708.

18. Boczonadi V, Jennings MJ, Horvath R. The role of tRNA synthetases in neurological and neuromuscular disorders. FEBS Lett 2018;592:703-17.

19. Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007;39:534-9.

20. Konovalova S, Tyynismaa H. Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 2013;108:206-11.

21. Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, et al. Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Hum Mutat 2015;36:587-92.

22. Pierce SB, Chisholm KM, Lynch ED, Lee MK, Walsh T, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A 2011;108:6543-8.

23. Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet 2013;92:614-20.

24. Belostotsky R, Ben-Shalom E, Rinat C, Becker-Cohen R, Feinstein S, et al. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet 2011;88:193-200.

25. Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003;72:1293-9.

26. McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010;87:560-6.

27. Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 2013;93:132-40.

28. Ruzzenente B, Assouline Z, Barcia G, Rio M, Boddaert N, et al. Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis. Hum Mutat 2018;39:2047-59.

29. Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, et al. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. Orphanet J Rare Dis 2018;13:45.

30. Scheidecker S, Bar S, Stoetzel C, Geoffroy V, Lannes B, et al. Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Hum Mutat 2019;40:1826-40.

31. Verrigni D, Diodato D, Di Nottia M, Torraco A, Bellacchio E, et al. Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect. Clin Genet 2017;91:918-23.

32. Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, et al. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet 2016;12:e1005679.

33. Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, et al. Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun 2018;9:4065.

34. Fine AS, Nemeth CL, Kaufman ML, Fatemi A. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination. J Neurodev Disord 2019;11:29.

35. D’Souza AR, Minczuk M. Mitochondrial transcription and translation: overview. Essays Biochem 2018;62:309-20.

36. Amunts A, Brown A, Toots J, Scheres SHW, Ramakrishnan V. Ribosome. The structure of the human mitochondrial ribosome. Science 2015;348:95-8.

37. Greber BJ, Bieri P, Leibundgut M, Leitner A, Aebersold R, et al. Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome. Science 2015;348:303-8.

38. Hakli S, Luotonen M, Sorri M, Majamaa K. Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment. BMC Med Genet 2015;16:3.

39. Zhao H, Li R, Wang Q, Yan Q, Deng JH, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004;74:139-52.

40. Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, et al. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain 2018;141:55-62.

41. Alila-Fersi O, Chamkha I, Majdoub I, Gargouri L, Mkaouar-Rebai E, et al. Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: a whole mitochondrial genome screening. Biochem Biophys Res Commun 2017;484:71-8.

42. Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, et al. Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report. BMC Med Genet 2018;19:129.

43. Liu Z, Song Y, Li D, He X, Li S, et al. The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy. J Med Genet 2014;51:176-84.

44. Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, et al. Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and leigh syndrome. Am J Hum Genet 2017;101:239-54.

45. Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, et al. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet 2018;27:1913-26.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/