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Education

PhD. Biological Science, University of Cambridge, 2017

Bsc. Biochemistry, University of Nottingham, 2010

Research description

Publications:

Pearce SF, Rorbach J, Van Haute L, D'Souza AR, Rebelo-Guiomar P, Powell CA, Brierley I, Firth AE, Minczuk M. (2017) Maturation of selected human mitochondrial tRNAs requires deadenylation. Elife. 2017 Jul 26;6. pii: e27596.

Pearce, SF, Rebelo-Guiomar, P, D’Souza, AR, Powell, CA, Van Haute, L and Minczuk, M (2017). Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances. Trends Biochem Sci 42(8), 625-639

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. (2016) TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet J Rare Dis.Jul 2;11(1):90.

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. (2016) Deficient methylation and formylation of mt- tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. Jun 30;7:12039.

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M and Van Coster R. (2015) Two siblings with homozygous pathogenic splice-site variant in mitochon- drial asparaginyl-tRNA synthetase (NARS2). Hum. Mutat. 36(2):222-31

Van Haute L, Pearce SF, Powell CA, D’Souza AR, Nicholls TJ and Minczuk M (2015) Mitochondrial transcript maturation and its disorders. JIMD 38(4): 655-80

Dalla Rosa I*, Durigon R*, Pearce SF*, Rorbach J, Hirst EM, Vidoni S, Reyes S, Brea- Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ and Spinazzola A. (2014). MPV17L2 is required for ribosome assembly in mitochondria. Nucleic Acids Res. 42(13):8500- 15.

**ID, RD and SFP are joint first authors listed alphabetically**

Rorbach J, Boesch P, Gammage PA, Nicholls TJ, Pearce SF, Patel D, Hauser A, Perocchi F and Minczuk M (2014). MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. Mol. Biol. Cell. 25 (17): 2542-2555.

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. (2014) Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 95(6):708-20

Johnson MA, Vidoni S, Durigon R, Pearce SF, Rorbach J, He J, Brea-Calvo G, Minczuk M, Reyes A, Holt IJ and Spinazzola A. (2014) Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis. PLoS One. 9(4):e93597

Rorbach J, Bobrowicz A, Pearce S, Minczuk M. (2014) Polyadenylation in bacteria and organelles. Methods Mol. Biol. 1125:211-27

Pearce S, Nezich CL and Spinazzola A. (2013) Mitochondrial diseases: translation matters. Mol. Cell. Neurosci. 55: 1-12

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Presentations

Oral presentation:  Deadenylation specifies a human mitochondrial repair pathway for non-coding RNAs. EUROMIT 2017, Cologne June 2017.