Page 61 - Read Online
P. 61
Webb et al. J Transl Genet Genom 2020;4:71-80 I https://doi.org/10.20517/jtgg.2020.11 Page 79
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. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews (R). 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.