{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T22:16:33Z","timestamp":1789769793294,"version":"4.0.1"},"reference-count":53,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,1,3]],"date-time":"2019-01-03T00:00:00Z","timestamp":1546473600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,1,3]],"date-time":"2019-01-03T00:00:00Z","timestamp":1546473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"MEXT-Supported Program for the Private University Research Branding Project"},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109273s0102 and 18ek0109177s0103"],"award-info":[{"award-number":["18ek0109273s0102 and 18ek0109177s0103"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18kk0205002s9903"],"award-info":[{"award-number":["18kk0205002s9903"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008732","name":"Uehara Memorial Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008732","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1007\/s10048-018-0561-9","type":"journal-article","created":{"date-parts":[[2019,1,3]],"date-time":"2019-01-03T17:41:56Z","timestamp":1546537316000},"page":"9-25","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome"],"prefix":"10.1007","volume":"20","author":[{"given":"Nurun Nahar","family":"Borna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihito","family":"Kishita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masakazu","family":"Kohda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sze Chern","family":"Lim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaru","family":"Shimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yibo","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Mogushi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Yatsuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Harashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuichiro","family":"Hisatomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Fushimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Ichimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Ohtake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,1,3]]},"reference":[{"key":"561_CR1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1146\/annurev-biochem-060815-014402","volume":"85","author":"CM Gustafsson","year":"2016","unstructured":"Gustafsson CM, Falkenberg M, Larsson NG (2016) Maintenance and expression of mammalian mitochondrial DNA. Annu Rev Biochem 85:133\u2013160. \n                    https:\/\/doi.org\/10.1146\/annurev-biochem-060815-014402","journal-title":"Annu Rev Biochem"},{"key":"561_CR2","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.biocel.2013.12.011","volume":"48","author":"V Boczonadi","year":"2014","unstructured":"Boczonadi V, Horvath R (2014) Mitochondria: impaired mitochondrial translation in human disease. Int J Biochem Cell Biol 48:77\u201384. \n                    https:\/\/doi.org\/10.1016\/j.biocel.2013.12.011","journal-title":"Int J Biochem Cell Biol"},{"issue":"5","key":"561_CR3","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1002\/wrna.1128","volume":"3","author":"O Rackham","year":"2012","unstructured":"Rackham O, Mercer TR, Filipovska A (2012) The human mitochondrial transcriptome and the RNA-binding proteins that regulate its expression. Wiley Interdiscip Rev RNA 3(5):675\u2013695. \n                    https:\/\/doi.org\/10.1002\/wrna.1128","journal-title":"Wiley Interdiscip Rev RNA"},{"issue":"2","key":"561_CR4","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.cmet.2014.07.001","volume":"20","author":"BM Hallberg","year":"2014","unstructured":"Hallberg BM, Larsson NG (2014) Making proteins in the powerhouse. Cell Metab 20(2):226\u2013240. \n                    https:\/\/doi.org\/10.1016\/j.cmet.2014.07.001","journal-title":"Cell Metab"},{"issue":"4","key":"561_CR5","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1023\/A:1006352315928","volume":"42","author":"S Aubourg","year":"2000","unstructured":"Aubourg S, Boudet N, Kreis M, Lecharny A (2000) In Arabidopsis thaliana, 1% of the genome codes for a novel protein family unique to plants. Plant Mol Biol 42(4):603\u2013613. \n                    https:\/\/doi.org\/10.1023\/a:1006352315928","journal-title":"Plant Mol Biol"},{"issue":"2","key":"561_CR6","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/S0968-0004(99)01520-0","volume":"25","author":"ID Small","year":"2000","unstructured":"Small ID, Peeters N (2000) The PPR motif\u2014a TPR-related motif prevalent in plant organellar proteins. Trends Biochem Sci 25(2):45\u201347","journal-title":"Trends Biochem Sci"},{"issue":"1","key":"561_CR7","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.celrep.2018.03.033","volume":"23","author":"KL Perks","year":"2018","unstructured":"Perks KL, Rossetti G, Kuznetsova I, Hughes LA, Ermer JA, Ferreira N, Busch JD, Rudler DL, Spahr H, Schondorf T, Shearwood AJ, Viola HM, Siira SJ, Hool LC, Milenkovic D, Larsson NG, Rackham O, Filipovska A (2018) PTCD1 is required for 16S rRNA maturation complex stability and mitochondrial ribosome assembly. Cell Rep 23(1):127\u2013142. \n                    https:\/\/doi.org\/10.1016\/j.celrep.2018.03.033","journal-title":"Cell Rep"},{"issue":"9","key":"561_CR8","doi-asserted-by":"publisher","first-page":"1426","DOI":"10.4161\/rna.24769","volume":"10","author":"A Filipovska","year":"2013","unstructured":"Filipovska A, Rackham O (2013) Pentatricopeptide repeats: modular blocks for building RNA-binding proteins. RNA Biol 10(9):1426\u20131432. \n                    https:\/\/doi.org\/10.4161\/rna.24769","journal-title":"RNA Biol"},{"issue":"12","key":"561_CR9","doi-asserted-by":"publisher","first-page":"1853","DOI":"10.1016\/j.febslet.2009.04.048","volume":"583","author":"SM Davies","year":"2009","unstructured":"Davies SM, Rackham O, Shearwood AM, Hamilton KL, Narsai R, Whelan J, Filipovska A (2009) Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation. FEBS Lett 583(12):1853\u20131858. \n                    https:\/\/doi.org\/10.1016\/j.febslet.2009.04.048","journal-title":"FEBS Lett"},{"issue":"6230","key":"561_CR10","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1126\/science.aaa1193","volume":"348","author":"A Amunts","year":"2015","unstructured":"Amunts A, Brown A, Toots J, Scheres SHW, Ramakrishnan V (2015) The structure of the human mitochondrial ribosome. Science 348(6230):95\u201398. \n                    https:\/\/doi.org\/10.1126\/science.aaa1193","journal-title":"Science"},{"issue":"20","key":"561_CR11","doi-asserted-by":"publisher","first-page":"7284","DOI":"10.1073\/pnas.1401657111","volume":"111","author":"PS Kaushal","year":"2014","unstructured":"Kaushal PS, Sharma MR, Booth TM, Haque EM, Tung CS, Sanbonmatsu KY, Spremulli LL, Agrawal RK (2014) Cryo-EM structure of the small subunit of the mammalian mitochondrial ribosome. Proc Natl Acad Sci U S A 111(20):7284\u20137289. \n                    https:\/\/doi.org\/10.1073\/pnas.1401657111","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6232","key":"561_CR12","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1126\/science.aaa3872","volume":"348","author":"BJ Greber","year":"2015","unstructured":"Greber BJ, Bieri P, Leibundgut M, Leitner A, Aebersold R, Boehringer D, Ban N (2015) Ribosome. The complete structure of the 55S mammalian mitochondrial ribosome. Science 348(6232):303\u2013308. \n                    https:\/\/doi.org\/10.1126\/science.aaa3872","journal-title":"Science"},{"issue":"7717","key":"561_CR13","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1038\/s41586-018-0373-y","volume":"560","author":"E Kummer","year":"2018","unstructured":"Kummer E, Leibundgut M, Rackham O, Lee RG, Boehringer D, Filipovska A, Ban N (2018) Unique features of mammalian mitochondrial translation initiation revealed by cryo-EM. Nature 560(7717):263\u2013267. \n                    https:\/\/doi.org\/10.1038\/s41586-018-0373-y","journal-title":"Nature"},{"issue":"3","key":"561_CR14","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1136\/jnnp.14.3.216","volume":"14","author":"D Leigh","year":"1951","unstructured":"Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14(3):216\u2013221. \n                    https:\/\/doi.org\/10.1136\/jnnp.14.3.216","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"6","key":"561_CR15","doi-asserted-by":"publisher","first-page":"1125","DOI":"10.1086\/510023","volume":"79","author":"LC Lopez","year":"2006","unstructured":"Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, Dimauro S, Hirano M (2006) Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 79(6):1125\u20131129. \n                    https:\/\/doi.org\/10.1086\/510023","journal-title":"Am J Hum Genet"},{"key":"561_CR16","doi-asserted-by":"publisher","first-page":"221","DOI":"10.2147\/TACG.S46176","volume":"7","author":"IS Ruhoy","year":"2014","unstructured":"Ruhoy IS, Saneto RP (2014) The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet 7:221\u2013234. \n                    https:\/\/doi.org\/10.2147\/TACG.S46176","journal-title":"Appl Clin Genet"},{"issue":"2","key":"561_CR17","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1002\/ana.24551","volume":"79","author":"NJ Lake","year":"2016","unstructured":"Lake NJ, Compton AG, Rahman S, Thorburn DR (2016) Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol 79(2):190\u2013203. \n                    https:\/\/doi.org\/10.1002\/ana.24551","journal-title":"Ann Neurol"},{"issue":"1","key":"561_CR18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005679","volume":"12","author":"M Kohda","year":"2016","unstructured":"Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y (2016) A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet 12(1):e1005679. \n                    https:\/\/doi.org\/10.1371\/journal.pgen.1005679","journal-title":"PLoS Genet"},{"key":"561_CR19","doi-asserted-by":"publisher","unstructured":"Kirby DM, Thorburn DR, Turnbull DM, Taylor RW (2007) Biochemical assays of respiratory chain complex activity. In: Pon L, Schon E (eds) Methods in cell biology, vol 80. Academic Press, pp 93\u2013119. \n                    https:\/\/doi.org\/10.1016\/S0091-679X(06)80004-X","DOI":"10.1016\/S0091-679X(06)80004-X"},{"key":"561_CR20","doi-asserted-by":"publisher","unstructured":"McKenzie M, Lazarou M, Ryan MT (2009) Chapter 18 analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits. In: Allison W, Scheffler I (eds) Mitochondrial function, part a: mitochondrial electron transport complexes and reactive oxygen species. Methods in enzymology. Elsevier, pp 321\u2013339. \n                    https:\/\/doi.org\/10.1016\/s0076-6879(08)04418-2","DOI":"10.1016\/s0076-6879(08)04418-2"},{"issue":"6","key":"561_CR21","doi-asserted-by":"publisher","first-page":"1415","DOI":"10.1016\/j.cell.2014.07.039","volume":"158","author":"Y Wu","year":"2014","unstructured":"Wu Y, Williams EG, Dubuis S, Mottis A, Jovaisaite V, Houten SM, Argmann CA, Faridi P, Wolski W, Kutalik Z, Zamboni N, Auwerx J, Aebersold R (2014) Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population. Cell 158(6):1415\u20131430. \n                    https:\/\/doi.org\/10.1016\/j.cell.2014.07.039","journal-title":"Cell"},{"issue":"5","key":"561_CR22","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.1074\/mcp.M114.044305","volume":"14","author":"R Bruderer","year":"2015","unstructured":"Bruderer R, Bernhardt OM, Gandhi T, Miladinovic SM, Cheng LY, Messner S, Ehrenberger T, Zanotelli V, Butscheid Y, Escher C, Vitek O, Rinner O, Reiter L (2015) Extending the limits of quantitative proteome profiling with data-independent acquisition and application to acetaminophen-treated three-dimensional liver microtissues. Mol Cell Proteomics 14(5):1400\u20131410. \n                    https:\/\/doi.org\/10.1074\/mcp.M114.044305","journal-title":"Mol Cell Proteomics"},{"issue":"5","key":"561_CR23","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1002\/pmic.200600625","volume":"7","author":"H Lam","year":"2007","unstructured":"Lam H, Deutsch EW, Eddes JS, Eng JK, King N, Stein SE, Aebersold R (2007) Development and validation of a spectral library searching method for peptide identification from MS\/MS. Proteomics 7(5):655\u2013667. \n                    https:\/\/doi.org\/10.1002\/pmic.200600625","journal-title":"Proteomics"},{"issue":"5","key":"561_CR24","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1038\/nmeth.1584","volume":"8","author":"L Reiter","year":"2011","unstructured":"Reiter L, Rinner O, Picotti P, Huttenhain R, Beck M, Brusniak MY, Hengartner MO, Aebersold R (2011) mProphet: automated data processing and statistical validation for large-scale SRM experiments. Nat Methods 8(5):430\u2013435. \n                    https:\/\/doi.org\/10.1038\/nmeth.1584","journal-title":"Nat Methods"},{"issue":"D1","key":"561_CR25","doi-asserted-by":"publisher","first-page":"D447","DOI":"10.1093\/nar\/gkv1145","volume":"44","author":"JA Vizcaino","year":"2016","unstructured":"Vizcaino JA, Csordas A, del-Toro N, Dianes JA, Griss J, Lavidas I, Mayer G, Perez-Riverol Y, Reisinger F, Ternent T, Xu QW, Wang R, Hermjakob H (2016) 2016 update of the PRIDE database and its related tools. Nucleic Acids Res 44(D1):D447\u2013D456. \n                    https:\/\/doi.org\/10.1093\/nar\/gkv1145","journal-title":"Nucleic Acids Res"},{"issue":"D1","key":"561_CR26","doi-asserted-by":"publisher","first-page":"D1251","DOI":"10.1093\/nar\/gkv1003","volume":"44","author":"SE Calvo","year":"2016","unstructured":"Calvo SE, Clauser KR, Mootha VK (2016) MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res 44(D1):D1251\u2013D1257. \n                    https:\/\/doi.org\/10.1093\/nar\/gkv1003","journal-title":"Nucleic Acids Res"},{"issue":"7616","key":"561_CR27","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536(7616):285\u2013291. \n                    https:\/\/doi.org\/10.1038\/nature19057","journal-title":"Nature"},{"key":"561_CR28","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9018","volume":"6","author":"M Nagasaki","year":"2015","unstructured":"Nagasaki M, Yasuda J, Katsuoka F, Nariai N, Kojima K, Kawai Y, Yamaguchi-Kabata Y, Yokozawa J, Danjoh I, Saito S, Sato Y, Mimori T, Tsuda K, Saito R, Pan X, Nishikawa S, Ito S, Kuroki Y, Tanabe O, Fuse N et al (2015) Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nat Commun 6:8018. \n                    https:\/\/doi.org\/10.1038\/ncomms9018","journal-title":"Nat Commun"},{"issue":"D1","key":"561_CR29","doi-asserted-by":"publisher","first-page":"D754","DOI":"10.1093\/nar\/gkx1098","volume":"46","author":"DR Zerbino","year":"2018","unstructured":"Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, Billis K, Cummins C, Gall A, Giron CG, Gil L, Gordon L, Haggerty L, Haskell E, Hourlier T, Izuogu OG, Janacek SH, Juettemann T, To JK, Laird MR et al (2018) Ensembl 2018. Nucleic Acids Res 46(D1):D754\u2013D761. \n                    https:\/\/doi.org\/10.1093\/nar\/gkx1098","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"561_CR30","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1038\/s41588-018-0154-4","volume":"50","author":"ER Gamazon","year":"2018","unstructured":"Gamazon ER, Segre AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J, Consortium GT, Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG (2018) Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Nat Genet 50(7):956\u2013967. \n                    https:\/\/doi.org\/10.1038\/s41588-018-0154-4","journal-title":"Nat Genet"},{"issue":"4","key":"561_CR31","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/j.molcel.2008.10.021","volume":"32","author":"R Acin-Perez","year":"2008","unstructured":"Acin-Perez R, Fernandez-Silva P, Peleato ML, Perez-Martos A, Enriquez JA (2008) Respiratory active mitochondrial supercomplexes. Mol Cell 32(4):529\u2013539. \n                    https:\/\/doi.org\/10.1016\/j.molcel.2008.10.021","journal-title":"Mol Cell"},{"issue":"4","key":"561_CR32","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1016\/j.ajhg.2018.02.012","volume":"102","author":"T Gardeitchik","year":"2018","unstructured":"Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis D, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA et al (2018) Bi-allelic mutations in the mitochondrial ribosomal protein MRPS2 cause sensorineural hearing loss, hypoglycemia, and multiple OXPHOS complex deficiencies. Am J Hum Genet 102(4):685\u2013695. \n                    https:\/\/doi.org\/10.1016\/j.ajhg.2018.02.012","journal-title":"Am J Hum Genet"},{"issue":"2","key":"561_CR33","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1093\/toxsci\/kfm052","volume":"97","author":"LD Marroquin","year":"2007","unstructured":"Marroquin LD, Hynes J, Dykens JA, Jamieson JD, Will Y (2007) Circumventing the Crabtree effect: replacing media glucose with galactose increases susceptibility of HepG2 cells to mitochondrial toxicants. Toxicol Sci 97(2):539\u2013547. \n                    https:\/\/doi.org\/10.1093\/toxsci\/kfm052","journal-title":"Toxicol Sci"},{"issue":"3","key":"561_CR34","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1158\/0008-5472.CAN-03-1101","volume":"64","author":"R Rossignol","year":"2004","unstructured":"Rossignol R, Gilkerson R, Aggeler R, Yamagata K, Remington SJ, Capaldi RA (2004) Energy substrate modulates mitochondrial structure and oxidative capacity in cancer cells. Cancer Res 64(3):985\u2013993. \n                    https:\/\/doi.org\/10.1158\/0008-5472.Can-03-1101","journal-title":"Cancer Res"},{"issue":"2","key":"561_CR35","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/0885-4505(92)90056-5","volume":"48","author":"BH Robinson","year":"1992","unstructured":"Robinson BH, Petrova-Benedict R, Buncic JR, Wallace DC (1992) Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Biochem Med Metab Biol 48(2):122\u2013126. \n                    https:\/\/doi.org\/10.1016\/0885-4505(92)90056-5","journal-title":"Biochem Med Metab Biol"},{"issue":"D1","key":"561_CR36","doi-asserted-by":"publisher","first-page":"D362","DOI":"10.1093\/nar\/gkw937","volume":"45","author":"D Szklarczyk","year":"2017","unstructured":"Szklarczyk D, Morris JH, Cook H, Kuhn M, Wyder S, Simonovic M, Santos A, Doncheva NT, Roth A, Bork P, Jensen LJ, von Mering C (2017) The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible. Nucleic Acids Res 45(D1):D362\u2013D368. \n                    https:\/\/doi.org\/10.1093\/nar\/gkw937","journal-title":"Nucleic Acids Res"},{"issue":"12","key":"561_CR37","doi-asserted-by":"publisher","first-page":"2085","DOI":"10.1261\/rna.029405.111","volume":"17","author":"O Rackham","year":"2011","unstructured":"Rackham O, Shearwood A-MJ, Mercer TR, Davies SMK, Mattick JS, Filipovska A (2011) Long noncoding RNAs are generated from the mitochondrial genome and regulated by nuclear-encoded proteins. RNA 17(12):2085\u20132093. \n                    https:\/\/doi.org\/10.1261\/rna.029405.111","journal-title":"RNA"},{"issue":"20","key":"561_CR38","doi-asserted-by":"publisher","first-page":"3555","DOI":"10.1016\/j.febslet.2012.07.043","volume":"586","author":"SM Davies","year":"2012","unstructured":"Davies SM, Lopez Sanchez MI, Narsai R, Shearwood AM, Razif MF, Small ID, Whelan J, Rackham O, Filipovska A (2012) MRPS27 is a pentatricopeptide repeat domain protein required for the translation of mitochondrially encoded proteins. FEBS Lett 586(20):3555\u20133561. \n                    https:\/\/doi.org\/10.1016\/j.febslet.2012.07.043","journal-title":"FEBS Lett"},{"issue":"9\u201310","key":"561_CR39","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1016\/j.bbagrm.2011.11.009","volume":"1819","author":"BE Christian","year":"2012","unstructured":"Christian BE, Spremulli LL (2012) Mechanism of protein biosynthesis in mammalian mitochondria. Biochim Biophys Acta 1819(9\u201310):1035\u20131054. \n                    https:\/\/doi.org\/10.1016\/j.bbagrm.2011.11.009","journal-title":"Biochim Biophys Acta"},{"key":"561_CR40","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1146\/annurev-biochem-060815-014334","volume":"85","author":"M Ott","year":"2016","unstructured":"Ott M, Amunts A, Brown A (2016) Organization and regulation of mitochondrial protein synthesis. Annu Rev Biochem 85:77\u2013101. \n                    https:\/\/doi.org\/10.1146\/annurev-biochem-060815-014334","journal-title":"Annu Rev Biochem"},{"issue":"3","key":"561_CR41","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1016\/j.mito.2008.04.004","volume":"8","author":"M Emdadul Haque","year":"2008","unstructured":"Emdadul Haque M, Grasso D, Miller C, Spremulli LL, Saada A (2008) The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. Mitochondrion 8(3):254\u2013261. \n                    https:\/\/doi.org\/10.1016\/j.mito.2008.04.004","journal-title":"Mitochondrion"},{"issue":"2","key":"561_CR42","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/j.ajhg.2017.07.005","volume":"101","author":"NJ Lake","year":"2017","unstructured":"Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z et al (2017) Biallelic mutations in MRPS34 Lead to instability of the small mitoribosomal subunit and Leigh syndrome. Am J Hum Genet 101(2):239\u2013254. \n                    https:\/\/doi.org\/10.1016\/j.ajhg.2017.07.005","journal-title":"Am J Hum Genet"},{"issue":"4","key":"561_CR43","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.cmet.2009.03.001","volume":"9","author":"MD Metodiev","year":"2009","unstructured":"Metodiev MD, Lesko N, Park CB, Camara Y, Shi Y, Wibom R, Hultenby K, Gustafsson CM, Larsson NG (2009) Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome. Cell Metab 9(4):386\u2013397. \n                    https:\/\/doi.org\/10.1016\/j.cmet.2009.03.001","journal-title":"Cell Metab"},{"issue":"1","key":"561_CR44","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/j.cell.2006.03.022","volume":"125","author":"LJ Foster","year":"2006","unstructured":"Foster LJ, de Hoog CL, Zhang Y, Zhang Y, Xie X, Mootha VK, Mann M (2006) A mammalian organelle map by protein correlation profiling. Cell 125(1):187\u2013199. \n                    https:\/\/doi.org\/10.1016\/j.cell.2006.03.022","journal-title":"Cell"},{"issue":"2","key":"561_CR45","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1007\/s10541-005-0102-7","volume":"70","author":"AY Andreyev","year":"2005","unstructured":"Andreyev AY, Kushnareva YE, Starkov AA (2005) Mitochondrial metabolism of reactive oxygen species. Biochemistry (Mosc) 70(2):200\u2013214","journal-title":"Biochemistry (Mosc)"},{"key":"561_CR46","doi-asserted-by":"publisher","first-page":"428010","DOI":"10.1155\/2012\/428010","volume":"2012","author":"S Gandhi","year":"2012","unstructured":"Gandhi S, Abramov AY (2012) Mechanism of oxidative stress in neurodegeneration. Oxidative Med Cell Longev 2012:428010\u2013428011. \n                    https:\/\/doi.org\/10.1155\/2012\/428010","journal-title":"Oxidative Med Cell Longev"},{"issue":"5133","key":"561_CR47","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1126\/science.8211186","volume":"262","author":"HG Brunner","year":"1993","unstructured":"Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA (1993) Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262(5133):578\u2013580","journal-title":"Science"},{"issue":"1","key":"561_CR48","doi-asserted-by":"publisher","first-page":"68","DOI":"10.2340\/00015555-0561","volume":"89","author":"A Ganemo","year":"2009","unstructured":"Ganemo A, Jagell S, Vahlquist A (2009) Sjogren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. Acta Derm Venereol 89(1):68\u201373. \n                    https:\/\/doi.org\/10.2340\/00015555-0561","journal-title":"Acta Derm Venereol"},{"issue":"4","key":"561_CR49","doi-asserted-by":"publisher","first-page":"e225","DOI":"10.5546\/aap.2017.eng.e225","volume":"115","author":"S Liu","year":"2017","unstructured":"Liu S, Wang Z, Liang J, Chen N, OuYang H, Zeng W, Chen L, Xie X, Jiang J (2017) Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. Arch Argent Pediatr 115(4):e225\u2013e229. \n                    https:\/\/doi.org\/10.5546\/aap.2017.eng.e225","journal-title":"Arch Argent Pediatr"},{"issue":"6","key":"561_CR50","doi-asserted-by":"publisher","first-page":"2236","DOI":"10.1096\/fj.201500137R","volume":"30","author":"SC Lim","year":"2016","unstructured":"Lim SC, Hroudova J, Van Bergen NJ, Lopez Sanchez MI, Trounce IA, McKenzie M (2016) Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly. FASEB J 30(6):2236\u20132248. \n                    https:\/\/doi.org\/10.1096\/fj.201500137R","journal-title":"FASEB J"},{"issue":"1","key":"561_CR51","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1002\/ana.10031","volume":"51","author":"M Savoiardo","year":"2002","unstructured":"Savoiardo M, Zeviani M, Uziel G, Farina L (2002) MRI in Leigh syndrome with SURF1 gene mutation. Ann Neurol 51(1):138\u2013139. \n                    https:\/\/doi.org\/10.1002\/ana.10031","journal-title":"Ann Neurol"},{"issue":"4","key":"561_CR52","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.pediatrneurol.2008.07.013","volume":"39","author":"J Finsterer","year":"2008","unstructured":"Finsterer J (2008) Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 39(4):223\u2013235. \n                    https:\/\/doi.org\/10.1016\/j.pediatrneurol.2008.07.013","journal-title":"Pediatr Neurol"},{"issue":"5\u20136","key":"561_CR53","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/j.mito.2008.05.003","volume":"8","author":"RP Saneto","year":"2008","unstructured":"Saneto RP, Friedman SD, Shaw DW (2008) Neuroimaging of mitochondrial disease. Mitochondrion 8(5\u20136):396\u2013413. \n                    https:\/\/doi.org\/10.1016\/j.mito.2008.05.003","journal-title":"Mitochondrion"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-018-0561-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10048-018-0561-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-018-0561-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T15:34:53Z","timestamp":1589643293000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10048-018-0561-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,3]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["561"],"URL":"https:\/\/doi.org\/10.1007\/s10048-018-0561-9","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,3]]},"assertion":[{"value":"26 October 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 December 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the ethics committee of Juntendo University and was performed after receiving written informed consent from the parents of the patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Study approval"}}]}}