Page 193 - Read Online
P. 193

Saneto. J Transl Genet Genom 2020;4:384-428  I  http://dx.doi.org/10.20517/jtgg.2020.40                                           Page 421

               142. Bourdon A, Minai L, Derre V, Jais JP, Sarzi E, et al. Mutation of RRM2B encoding p53-controlled ribonucleotide reductase (p53R2),
                   causes severe mitochondrial DNA depletion. Nature Genet 2007;39:776-80.
               143. Fratter C, Ramen P. Alston CL, Blakley EL, Craig K, et al. RRM2B mutations ae frequent in familial PEO with multiple mtDNA
                   deletions. Neurology 2011;76:232-4.
               144. Pontarin G, Fijolek A, Pizzo P, Ferraro P, Rampazzo C, et al. Ribonucleotide reduction is a cytosolic process in mammalian cell
                   independently of DNA damage. Proc Natl Acad Sci USA 2008;105:17801-5.
               145. Nishigaki Y, Marti R, Copeland WC, Hirano M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine
                   phosphorylase deficiency. J Clin Invest 2003;111:1913-21.
               146. Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, et al. Gastrointestinal dysmotility in mitochondrial
                   neruogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol 2008;173:1120-8.
               147. Garone C, Tadesse S, Hirano M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain
                   2011;134:3326-32.
               148. Farge G, Laurens N, Broekmans OD, van den Wildenberg SM, Dekker LCM, et al. Protein sliding and DNA denaturation are essential for
                   DNA organization by human mitochondrial transcription factor A. Nat Commun 2012;3:1013.
               149. Posse V, Hoberg E, Dierclx A, Shahzad S, Koolmeister C, et al. The amino terminal extension of mammalian mitochondrial RNA
                   polymerase ensures promoter specific transcription initiation. Nucleic Acids Res 2014;42:3638-47.
               150. Sologub M, Litonin D, Anikin M, Mustaev A, Temiakov D. TFB2 is a transient component of the catalytic site of the human
                   mitochondrial RNA polymerase. Cell 2009;139:934-44.
               151. Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, et al. TEFM (c17orf42) is necessary for transcription of human mtDNA. Nucleic
                   Acids Res 2011;39:4284-99.
               152. Terzioglu MTERF1 binds mtDNA to prevent transcriptional interference at the light-strand promoter but is dispensable for rRNA gene
                   transcription regulation. Cell Metab 2013;17:618-26.
               153. D’Souza AR, Minczuk M. Mitochondrial transcription and translation: overview. Essays Biochem 2018;62:309-20.
               154. Suzuki T, Nagao T, Suzuki T. Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs. WIREs
                   RNA 2011;2:376-86.
               155. Suzuki T, Nagao A, Suzuki T. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and disease. Annu Rev Genet
                   2011;45:299-329.
               156. Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial
                   encephalomyopathies. Nature 1990;348:651-3.
               157. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol
                   Genet Metab 2015;116:4-12.
               158. Hirano M, Ricci E, Koenigsberger MR, Defendini R, Paviakis SG, et al. MELAS: an original case and clinical criteria for diagnosis.
                   Neuromuscul Disord 1992;2:125-35.
               159. Amunts A, Brown A, Toots J, Scheres SH, Ribosome RV. The structure of the human mitochondrial mitoribosome. Science
                   2015;348:95-8.
               160. Brown A, Amunts A, Bai XC, Sugimoto Y, Edwards PC, et al. Structure of the large ribosomal subunit from human mitochondria. Science
                   2014;346:718-22.
               161. Mai N, Chrzanowska-Lightowlers ZM, Lightowlers RN. The process of mammalian mitochondrial protein synthesis. Cell and Tissue Res
                   2017;367:5-20.
               162. Ott M, Amunts A, Brown A. Organization and regulation of mitochondrial protein synthesis. Ann Rev Biochem 2016;85:77-101.
               163. Lake MK, Webb BD, Stroud DA, Richman TR, Rizzenente B, et al. Biallelic mutations in MRPS34 lead to instability of the small
                   mitochondrial subunit and Leigh syndrome. Am J Hum Genet 2017;101:239-54.
               164. 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.
               165. Guan MX, Fischel-Ghodsian N, Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol
                   Genet 2000;9:1787-96.
                                                                                              1
               166. Zhou M, Xue L, Chen Y, Li H, He Q, et al. A hypertension-association mitochondrial DNA mutation introduces an m G37 modification
                   into tRNA , altering its structure and function. J Biol Chem 2018;293:1425-38.
                         Met
               167. Hallberg BM, Larsson NG. Making proteins in the powerhouse. Cell Metab 2014;20:226-40.
               168. Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, et al. Recessive mutations in TRMT10C cause defects in mitochondrial
                   processing and multiple respiratory chain defects. Am J Hum Genet 2016;98:993-1000.
               169. Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, et al. A novel HSD17B10 mutation impairing the activities of mitochondrial RNase
                   P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA Biol 2016;13:477-85.
               170. Haack TB, Kopajtich R, Freisinger P, Wieland T, Robach J, et al. ELAC2 mutations cause a mitochondrial RNA processing defect
                   associated with hypertrophic cardiomyopathy. Am J Hum Genet 2013;93:211-23.
               171. Paucar M, Pajak A, Freyer C, Bergendal A, Dory M, et al. Chorea, psychosis, acanthocytosis and prolonged survival associated with
                   ELAC2 mutations. Neurology 2018;91:710-2.
               172. Matilainen S, Carroll CJ, Richter U, Euro L, Pohjanpelto M, et al. Defective mitochondrial RNA processing due to PNPT1 variants
                   causes Leigh syndrome. Hum Mol Genet 2017;26:3352-61.
               173. Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, et al. Defective mitochondrial mRNA maturation is associated with spastic
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