Page 194 - Read Online

Page 422 Saneto. J Transl Genet Genom 2020;4:384-428 I http://dx.doi.org/10.20517/jtgg.2020.40

ataxia. Am J Hum Genet 2010;87:655-60.
174. Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, et al. Biallelic mutation in MTPAP associated with lethal encephalopathy.
Neuropediatrics 2020;51:178-84.
175. Sasarman F, Brunel-Guitton C, Anatonicka H, Wai T, Shoubridge EA. LRPPRC and SLIRP interact in a ribonucleoprotein complex that
regulates posttranscriptional gene expression in mitochondria. Mol Biol Cell 2010;21:1315-23.
176. Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, et al. Clinical, metabolic, and genetic aspects of cytochrome c oxidase deficiency
in Saguenay-Lac-Saint-Jean. Am J Hum Genet 1993;53:488-96.
177. Ghezzi D, Saada A, D’Aamo P, Fernandez-Vizarra F, Gasparini P, et al. FASTKD2 nonsense mutation in an infantile mitochondrial
encephalomyopathy associated with cytochrome C oxidase deficiency. Am J Hum Genet 2008;83:415-23.
178. Popow J, Alleaume AM, Curk T, Schwarzl T, Sauer S, et al. FASTKD2 is an RNA-binding protein required for mitochondrial RNA
processing and translation. RNA 2015;21:1873-84.
179. Garone C, D’Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, et al. Defect mitochondrial rRNA methyltransferase MRM2 causes
MELAS-like clinical syndrome. Hum Mol Genet 2017;26:4257-66.
180. Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, et al. A subcomplex of human mitochondrial RNase P is a bifunctional
methyltransferase-extenisve moonlighting in mitochondrial tRNA biogenesis. Nucleic Acids Res 2012;40:11583-93.
181. Powell CA, Kopajtich R, D’Souza AR, Rorbach J, Kremer LS, et al. TRMT5 mutations cause a defect in post-translational modification
of mitochondrial tRNA associated with multiple respiratory-chain deficiencies. Am J Hum Genet 2015;97:319-28.
182. Meseguer S, Boix O, Navarro-Ganzalez C, Villarroya M, Moutoual R, et al. MicroRNA-mediated differential expression of TRMU,
GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases. Sci Rep 2017;7:6209.
183. Boczonadi V, Bansagi B, Horvath R. Reversible infantile mitochondrial diseases. J Inherit Metab Dis 2015;38:427-35.
184. Ibba M, Soll D. Aminoacyl-tRNA synthesis. Annu Rev Biochem 2000;69:617-50.
185. Nagao A, Suzuki T, Katoh T, Sakaguchi Y, Suzuki T. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. Proc Natl Acad Sci
USA 2009;106:16209-14.
186. Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, et al. Pathogenic variants in glutamyl-tRNA amidotransferase subunits
Gln
cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun 2018;9:4065.
187. Haag S, Sloan KE, Ranjan N, Warda A, Kretschmer J, et al. NSUN3 and ABH1 modify the wobble position of mt-tRNA to expand
Met
codon recognition in mitochondrial translation. EMBO J 2016;35:2104-19.
188. Christain B, Haque E, Spremulli L. Ribosome shifting or splitting: it is all up to the EF-G. Mol Cell 2009;35:400-2.
189. Ravn K, Schonewolf-Greulich B, Hansen RM, Bohr AH, Duno M, et al. Neonatal mitochondrial hepatoencephalopathy caused by novel
GFM1 mutations. Mol Genet Metab Rep 2015;3:5-10.
190. Valente L, Tiranti RM, Marsano E, Malfatti E, Fernandez-Vizarra C, et al. Infantile encephalopathy and defective mitochondrial DNA
translation in patients with mutation of mitochondrial elongation factors EPG1 and EFTu. Am J Hum Genet 2007;80:44-58.
191. Tsuboi M, Morita H, Nozaki Y, Akama K, Ueda T, et al. EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein
synthesis. Mol Cell 2009;35:502-10.
192. Wesolowska M, Gorman GS, Alston C, Pajak A, Pyle A, et al. Adult onset Leigh syndrome in the intensive care setting: a novel
presentation of a C12orf65 related mitochondrial disease. J Neuromuscul Dis 2015 2015;2:409-19.
193. Richman TR, Spahr H, Ermer JA, Davies SMK, Viola HM, et al. Loss of the RNA-binding protein TACO1 causes late-onset
mitochondrial dysfunction in mice. Nat Commun 2016;7:11884.
194. Pfanner N, Warscheid B, Wiedemann N. Mitochondrial protein organization: from biogenesis to networks and function. Nat Rev Mol Cell
Biol 2019;20:267-84.
195. Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, et al. Sengers syndrome-associated mitochondrial acylglycerol kinase is a
subunit of the human TIM22 protein import complex. Mol Cell 2017;67:457-70.
196. Reyes A, Melchionda L, Burlina A, Robinson AJ, Ghezzi D, et al. Mutations in TIMM50 compromise cell survival in OxPhos-dependent
metabolic conditions. EMBO Mol Med 2018;10:e8698.
197. Beverly KN, Sawaya MR, Schmid E, Koehler CM. The Tim8-13 complex has multiple substrate binding sites and binds cooperatively to
Tim23. J Mol Biol 2008;382;1144-56.
198. Neighbor A, Moss T, Holloway L, Yu SH, Annese F, et al. Functional analysis of a novel mutation in the TIMM8A gene that causes
deafness-dystonia-optic neuronopathy syndrome. Mol Genet Genomic Med 2020;8:e1121.
199. Sevrioukova IF. Structure/function relations in AIFM1 variants associated with neurodegenerative disorders. J Mol Biol 2016;428:3650-65.
200. Sinha D, Srivastava S, D’Silva P. Functional diversity of human mitochondrial J-proteins is independent f their association with the inner
membrane presequence translocase. J Biol Chem 2016;291:17345-59.
201. Richter-Dennerlein R, Korwitz A, Haag M, Tatsuta T, Dargazanli S, et al. DNAJC19, a mitochondrial chaperone associated with
cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Cell Metab 2014;20:158-71.
202. Di Fonzo A, Ronchi D, Lodi T. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with
cataract and combined respiratory-chain deficiency. Am J Hum Genet 2009;84:594-604.
203. Eldomery MK, Akdemir AC, Vogtle FN, Chamg WL, Mulica P, et al. MIPEP recessive syndrome of left ventricular non-compaction,
hypotonia and infantile death. Genome Med 2016;8:106.
204. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, et al. PMPCA mutations cause abnormal mitochondrial protein processing in
patients with non-progressive cerebellar ataxia. Brain 2015;138:1505-17.
205. Quiros PM, Langer T, Lopez-Otin C. New roles for mitochondrial proteases in health, ageing and disease. Nat Rev Mol Cell Biol