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Page 1
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. Wedatilake Y, et al. Among authors: pearce s. Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0. Orphanet J Rare Dis. 2016. PMID: 27370603 Free PMC article.
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. 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.
Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances.
Pearce SF, Rebelo-Guiomar P, D'Souza AR, Powell CA, Van Haute L, Minczuk M. Pearce SF, et al. Trends Biochem Sci. 2017 Aug;42(8):625-639. doi: 10.1016/j.tibs.2017.02.003. Epub 2017 Mar 9. Trends Biochem Sci. 2017. PMID: 28285835 Free PMC article. Review.
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: pearce sf. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. Nat Commun. 2016. PMID: 27356879 Free PMC article.
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: pearce sf. 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.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattman A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmüller H, DiMauro S, Minczuk M, Chinnery PF, Müller JS, Horvath R. Hathazi D, et al. Among authors: pearce sf. EMBO J. 2020 Dec 1;39(23):e105364. doi: 10.15252/embj.2020105364. Epub 2020 Oct 31. EMBO J. 2020. PMID: 33128823 Free PMC article.
908 results