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Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.
Schöller E, Marks J, Marchand V, Bruckmann A, Powell CA, Reichold M, Mutti CD, Dettmer K, Feederle R, Hüttelmaier S, Helm M, Oefner P, Minczuk M, Motorin Y, Hafner M, Meister G. Schöller E, et al. Among authors: minczuk m. Mol Cell. 2021 Dec 2;81(23):4810-4825.e12. doi: 10.1016/j.molcel.2021.10.018. Epub 2021 Nov 12. Mol Cell. 2021. PMID: 34774131 Free PMC article.
Mitochondria: mitochondrial RNA metabolism and human disease.
Nicholls TJ, Rorbach J, Minczuk M. Nicholls TJ, et al. Among authors: minczuk m. 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.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H. Kopajtich R, et al. Among authors: minczuk m. Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434004 Free PMC article.
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Coughlin CR 2nd, et al. Among authors: minczuk m. J Med Genet. 2015 Aug;52(8):532-40. doi: 10.1136/jmedgenet-2015-103049. Epub 2015 Mar 18. J Med Genet. 2015. PMID: 25787132
Mitochondrial transcript maturation and its disorders.
Van Haute L, Pearce SF, Powell CA, D'Souza AR, Nicholls TJ, Minczuk M. Van Haute L, et al. Among authors: minczuk m. J Inherit Metab Dis. 2015 Jul;38(4):655-80. doi: 10.1007/s10545-015-9859-z. Epub 2015 May 28. J Inherit Metab Dis. 2015. PMID: 26016801 Free PMC article. Review.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M. Powell CA, et al. Among authors: minczuk m. Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16. Am J Hum Genet. 2015. PMID: 26189817 Free PMC article.
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: minczuk m. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. Nat Commun. 2016. PMID: 27356879 Free PMC article.
108 results