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Page 1
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Kline BL, Jaillard S, Bell KM, Bakhshalizadeh S, Robevska G, van den Bergen J, Dulon J, Ayers KL, Christodoulou J, Tchan MC, Touraine P, Sinclair AH, Tucker EJ. Kline BL, et al. Among authors: christodoulou j. Genes (Basel). 2022 Nov 14;13(11):2113. doi: 10.3390/genes13112113. Genes (Basel). 2022. PMID: 36421788 Free PMC article.
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
Tucker EJ, Hershman SG, Köhrer C, Belcher-Timme CA, Patel J, Goldberger OA, Christodoulou J, Silberstein JM, McKenzie M, Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, Mootha VK. Tucker EJ, et al. Among authors: christodoulou j. Cell Metab. 2011 Sep 7;14(3):428-34. doi: 10.1016/j.cmet.2011.07.010. Cell Metab. 2011. PMID: 21907147 Free PMC article.
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: christodoulou j. Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310. Sci Transl Med. 2012. PMID: 22277967 Free PMC article.
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Lim SC, et al. Among authors: christodoulou j. Hum Mol Genet. 2013 Nov 15;22(22):4460-73. doi: 10.1093/hmg/ddt295. Epub 2013 Jun 28. Hum Mol Genet. 2013. PMID: 23814038 Free PMC article.
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR. Tucker EJ, et al. Among authors: christodoulou j. PLoS Genet. 2013;9(12):e1004034. doi: 10.1371/journal.pgen.1004034. Epub 2013 Dec 26. PLoS Genet. 2013. PMID: 24385928 Free PMC article.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Among authors: christodoulou j. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: christodoulou j. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
592 results