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Page 1
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.
Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. Van Haute L, et al. Among authors: rorbach j. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. Nat Commun. 2016. PMID: 27356879 Free PMC article.
Alternative translation initiation augments the human mitochondrial proteome.
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M, Holt IJ. Kazak L, et al. Among authors: rorbach j. Nucleic Acids Res. 2013 Feb 1;41(4):2354-69. doi: 10.1093/nar/gks1347. Epub 2012 Dec 28. Nucleic Acids Res. 2013. PMID: 23275553 Free PMC article.
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Kornblum C, et al. Among authors: rorbach j. Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13. Nat Genet. 2013. PMID: 23313956 Free PMC article.
Mitochondria: mitochondrial RNA metabolism and human disease.
Nicholls TJ, Rorbach J, Minczuk M. Nicholls TJ, et al. Among authors: rorbach j. Int J Biochem Cell Biol. 2013 Apr;45(4):845-9. doi: 10.1016/j.biocel.2013.01.005. Epub 2013 Jan 17. Int J Biochem Cell Biol. 2013. PMID: 23333854 Review.
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. Haack TB, et al. Among authors: rorbach j. Am J Hum Genet. 2013 Aug 8;93(2):211-23. doi: 10.1016/j.ajhg.2013.06.006. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849775 Free PMC article.
Polyadenylation in bacteria and organelles.
Rorbach J, Bobrowicz A, Pearce S, Minczuk M. Rorbach J, et al. Methods Mol Biol. 2014;1125:211-27. doi: 10.1007/978-1-62703-971-0_18. Methods Mol Biol. 2014. PMID: 24590792
64 results