Associated Research Group Rorbach

Publications

Translation initiation of leaderless and polycistronic transcripts in mammalian mitochondria

  • Remes, C.
  • Khawaja, A.
  • Pearce, S. F.
  • Dinan, A. M.
  • Gopalakrishna, S.
  • Cipullo, M.
  • Kyriakidis, V.
  • Zhang, J.
  • Dopico, X. C.
  • Yukhnovets, O.
  • Atanassov, I.
  • Firth, A. E.
  • Cooperman, B.
  • Rorbach, J.
(2023) Nucleic Acids Res

Human mitochondria require mtRF1 for translation termination at non-canonical stop codons

  • Kruger, A.
  • Remes, C.
  • Shiriaev, D. I.
  • Liu, Y.
  • Spahr, H.
  • Wibom, R.
  • Atanassov, I.
  • Nguyen, M. D.
  • Cooperman, B. S.
  • Rorbach, J.
(2023) Nat Commun, 14, 1, 30

Mechanism of mitoribosomal small subunit biogenesis and preinitiation

  • Itoh, Y.*
  • Khawaja, A.*
  • Laptev, I.
  • Cipullo, M.
  • Atanassov, I.
  • Sergiev, P.
  • Rorbach, J.**
  • Amunts, A.**
(2022) Nature, 606, 7914, 603-608

Impaired plasma cell differentiation associates with increased oxidative metabolism in IkappaBNS-deficient B cells

  • Erikson, E.
  • Adori, M.
  • Khoenkhoen, S.
  • Zhang, J.
  • Rorbach, J.
  • Castro Dopico, X.
  • Karlsson Hedestam, G.
(2022) Cell Immunol, 375, 104516

Inhibition of mitochondrial translation suppresses glioblastoma stem cell growth

  • Sighel, D.
  • Notarangelo, M.
  • Aibara, S.
  • Re, A.
  • Ricci, G.
  • Guida, M.
  • Soldano, A.
  • Adami, V.
  • Ambrosini, C.
  • Broso, F.
  • Rosatti, E. F.
  • Longhi, S.
  • Buccarelli, M.
  • D'Alessandris, Q. G.
  • Giannetti, S.
  • Pacioni, S.
  • Ricci-Vitiani, L.
  • Rorbach, J.
  • Pallini, R.
  • Roulland, S.
  • Amunts, A.
  • Mancini, I.
  • Modelska, A.
  • Quattrone, A.
(2021) Cell Rep, 35, 4, 109024

Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors

  • Shi, Y.
  • Yuan, J.
  • Rraklli, V.
  • Maxymovitz, E.
  • Cipullo, M.
  • Liu, M.
  • Li, S.
  • Westerlund, I.
  • Bedoya-Reina, O. C.
  • Bullova, P.
  • Rorbach, J.
  • Juhlin, C. C.
  • Stenman, A.
  • Larsson, C.
  • Kogner, P.
  • O'Sullivan, M. J.
  • Schlisio, S.
  • Holmberg, J.
(2021) Nucleic Acids Res, 49, 5, 2509-2521

Mitoribosome Profiling from Human Cell Culture: A High Resolution View of Mitochondrial Translation

  • Pearce, S. F.
  • Cipullo, M.
  • Chung, B.
  • Brierley, I.
  • Rorbach, J.
(2021) Methods Mol Biol, 2192, 183-196

Quantitative density gradient analysis by mass spectrometry (qDGMS) and complexome profiling analysis (ComPrAn) R package for the study of macromolecular complexes

  • Palenikova, P.
  • Harbour, M. E.
  • Ding, S.
  • Fearnley, I. M.
  • Van Haute, L.
  • Rorbach, J.
  • Scavetta, R.
  • Minczuk, M.
  • Rebelo-Guiomar, P.
(2021) Biochim Biophys Acta Bioenerg, 1862, 6, 148399

Human Mitoribosome Biogenesis and Its Emerging Links to Disease

  • Lopez Sanchez, M. I. G.
  • Kruger, A.
  • Shiriaev, D. I.
  • Liu, Y.
  • Rorbach, J.
(2021) Int J Mol Sci, 22, 8

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

  • Cipullo, M.
  • Pearce, S. F.
  • Lopez Sanchez, I. G.
  • Gopalakrishna, S.
  • Kruger, A.
  • Schober, F.
  • Busch, J. D.
  • Li, X.
  • Wredenberg, A.
  • Atanassov, I.
  • Rorbach, J.**
(2021) Nucleic Acids Res, 49, 1, 354-370

Structural basis for late maturation steps of the human mitoribosomal large subunit

  • Cipullo, M.*
  • Gese, G. V.*
  • Khawaja, A.
  • Hallberg, B. M.**
  • Rorbach, J.**
(2021) Nat Commun, 12, 1, 3673

Methylation of Ribosomal RNA: A Mitochondrial Perspective

  • Lopez Sanchez, M. I. G.
  • Cipullo, M.
  • Gopalakrishna, S.
  • Khawaja, A.
  • Rorbach, J.
(2020) Front Genet, 11, 761

Distinct pre-initiation steps in human mitochondrial translation

  • Khawaja, A.*
  • Itoh, Y.*
  • Remes, C.
  • Spahr, H.
  • Yukhnovets, O.
  • Hofig, H.
  • Amunts, A.**
  • Rorbach, J.**
(2020) Nat Commun, 11, 1, 2932

Antibody phenotypes and probabilistic seroprevalence estimates during the emergence of SARS-CoV-2 in Sweden

  • Dopico, X. C.
  • Hanke, L.
  • Sheward, D. J.
  • Christian, M.
  • Muschiol, S.
  • Grinberg, N. F.
  • Adori, M.
  • Vidakovics, L. P.
  • Kim, C.
  • Khoenkhoen, S.
  • Pushparaj, P.
  • Morro, A. M.
  • Mandolesi, M.
  • Forsell, M.
  • Coquet, J.
  • Corcoran, M.
  • Rorbach, J.
  • Aleman, S.
  • Bogdanovic, G.
  • McInerney, G.
  • Allander, T.
  • Wallace, C.
  • Murrell, B.
  • Albert, J.
  • Karlsson Hedestam, G. B.
(2020) medRxiv, 2020.07.17.20155937

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

  • Gopalakrishna, S.*
  • Pearce, S. F.*
  • Dinan, A. M.
  • Schober, F. A.
  • Cipullo, M.
  • Spahr, H.
  • Khawaja, A.
  • Maffezzini, C.
  • Freyer, C.
  • Wredenberg, A.
  • Atanassov, I.
  • Firth, A. E.
  • Rorbach, J.**
(2019) Nucleic Acids Res, 47, 17, 9386-9399

MitoRibo-Tag Mice Provide a Tool for In Vivo Studies of Mitoribosome Composition

  • Busch, J. D.
  • Cipullo, M.
  • Atanassov, I.
  • Bratic, A.
  • Silva Ramos, E.
  • Schondorf, T.
  • Li, X.
  • Pearce, S. F.
  • Milenkovic, D.
  • Rorbach, J.**
  • Larsson, N. G.**
(2019) Cell Rep, 29, 6, 1728-1738 e9

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria

  • Kruppa, A. J.
  • Kishi-Itakura, C.
  • Masters, T. A.
  • Rorbach, J. E.
  • Grice, G. L.
  • Kendrick-Jones, J.
  • Nathan, J. A.
  • Minczuk, M.
  • Buss, F.
(2018) Dev Cell, 44, 4, 484-499 e6

The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome

  • Rozanska, A.
  • Richter-Dennerlein, R.
  • Rorbach, J.
  • Gao, F.
  • Lewis, R. J.
  • Chrzanowska-Lightowlers, Z. M.
  • Lightowlers, R. N.
(2017) Biochem J, 474, 13, 2145-2158

Ribosome origami

  • Rorbach, J.
  • Aibara, S.
  • Amunts, A.
(2017) Nat Struct Mol Biol, 24, 11, 879-881

Maturation of selected human mitochondrial tRNAs requires deadenylation

  • Pearce, S. F.
  • Rorbach, J.
  • Van Haute, L.
  • D'Souza, A. R.
  • Rebelo-Guiomar, P.
  • Powell, C. A.
  • Brierley, I.
  • Firth, A. E.
  • Minczuk, M.
(2017) Elife, 6

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells

  • Patel, D.
  • Rorbach, J.
  • Downes, K.
  • Szukszto, M. J.
  • Pekalski, M. L.
  • Minczuk, M.
(2017) Sci Rep, 7, 1, 12886

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

  • Garone, C.
  • D'Souza, A. R.
  • Dallabona, C.
  • Lodi, T.
  • Rebelo-Guiomar, P.
  • Rorbach, J.
  • Donati, M. A.
  • Procopio, E.
  • Montomoli, M.
  • Guerrini, R.
  • Zeviani, M.
  • Calvo, S. E.
  • Mootha, V. K.
  • DiMauro, S.
  • Ferrero, I.
  • Minczuk, M.
(2017) Hum Mol Genet, 26, 21, 4257-4266

Human mitochondrial ribosomes can switch structural tRNAs - but when and why?

  • Chrzanowska-Lightowlers, Z.
  • Rorbach, J.
  • Minczuk, M.
(2017) RNA Biol, 14, 12, 1668-1671

Structures of the human mitochondrial ribosome in native states of assembly

  • Brown, A.
  • Rathore, S.
  • Kimanius, D.
  • Aibara, S.
  • Bai, X. C.
  • Rorbach, J.
  • Amunts, A.
  • Ramakrishnan, V.
(2017) Nat Struct Mol Biol, 24, 10, 866-869

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, S. F.
  • Powell, C. A.
  • Rorbach, J.
  • Lantaff, R.
  • Blanco, S.
  • Sauer, S.
  • Kotzaeridou, U.
  • Hoffmann, G. F.
  • Memari, Y.
  • Kolb-Kokocinski, A.
  • Durbin, R.
  • Mayr, J. A.
  • Frye, M.
  • Prokisch, H.
  • Minczuk, M.
(2016) Nat Commun, 7, 12039

Human mitochondrial ribosomes can switch their structural RNA composition

  • Rorbach, J.
  • Gao, F.
  • Powell, C. A.
  • D'Souza, A.
  • Lightowlers, R. N.
  • Minczuk, M.
  • Chrzanowska-Lightowlers, Z. M.
(2016) Proc Natl Acad Sci U S A, 113, 43, 12198-12201

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries

  • Karniely, S.
  • Weekes, M. P.
  • Antrobus, R.
  • Rorbach, J.
  • van Haute, L.
  • Umrania, Y.
  • Smith, D. L.
  • Stanton, R. J.
  • Minczuk, M.
  • Lehner, P. J.
  • Sinclair, J. H.
(2016) mBio, 7, 2, e00029

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

  • Gammage, P. A.
  • Gaude, E.
  • Van Haute, L.
  • Rebelo-Guiomar, P.
  • Jackson, C. B.
  • Rorbach, J.
  • Pekalski, M. L.
  • Robinson, A. J.
  • Charpentier, M.
  • Concordet, J. P.
  • Frezza, C.
  • Minczuk, M.
(2016) Nucleic Acids Res, 44, 16, 7804-16

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

  • Powell, C. A.*
  • Kopajtich, R.*
  • D'Souza, A. R.
  • Rorbach, J.
  • Kremer, L. S.
  • Husain, R. A.
  • Dallabona, C.
  • Donnini, C.
  • Alston, C. L.
  • Griffin, H.
  • Pyle, A.
  • Chinnery, P. F.
  • Strom, T. M.
  • Meitinger, T.
  • Rodenburg, R. J.
  • Schottmann, G.
  • Schuelke, M.
  • Romain, N.
  • Haller, R. G.
  • Ferrero, I.
  • Haack, T. B.
  • Taylor, R. W.
  • Prokisch, H.
  • Minczuk, M.
(2015) Am J Hum Genet, 97, 2, 319-28

MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome

  • Rorbach, J.
  • Boesch, P.
  • Gammage, P. A.
  • Nicholls, T. J.
  • Pearce, S. F.
  • Patel, D.
  • Hauser, A.
  • Perocchi, F.
  • Minczuk, M.
(2014) Mol Biol Cell, 25, 17, 2542-55

Polyadenylation in bacteria and organelles

  • Rorbach, J.**
  • Bobrowicz, A.
  • Pearce, S.
  • Minczuk, M.
(2014) Methods Mol Biol, 1125, 211-27

Polyadenylation: Methods and Protocols.

  • Rorbach, J.
  • Bobrowicz, A.
(2014) Methods in Molecular Biology Series, 1125, XIV, 377

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

  • Kopajtich, R.*
  • Nicholls, T. J.*
  • Rorbach, J.*
  • Metodiev, M. D.
  • Freisinger, P.
  • Mandel, H.
  • Vanlander, A.
  • Ghezzi, D.
  • Carrozzo, R.
  • Taylor, R. W.
  • Marquard, K.
  • Murayama, K.
  • Wieland, T.
  • Schwarzmayr, T.
  • Mayr, J. A.
  • Pearce, S. F.
  • Powell, C. A.
  • Saada, A.
  • Ohtake, A.
  • Invernizzi, F.
  • Lamantea, E.
  • Sommerville, E. W.
  • Pyle, A.
  • Chinnery, P. F.
  • 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.
  • Regal, L.
  • Lorber, A.
  • Khoury, A.
  • Zeviani, M.
  • Strom, T. M.
  • Meitinger, T.
  • Bertini, E. S.
  • Van Coster, R.
  • Klopstock, T.
  • Rotig, A.
  • Haack, T. B.
  • Minczuk, M.
  • Prokisch, H.
(2014) Am J Hum Genet, 95, 6, 708-20

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

  • Johnson, M. A.
  • Vidoni, S.
  • Durigon, R.
  • Pearce, S. F.
  • Rorbach, J.
  • He, J.
  • Brea-Calvo, G.
  • Minczuk, M.
  • Reyes, A.
  • Holt, I. J.
  • Spinazzola, A.
(2014) PLoS One, 9, 4, e93597

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

  • Gammage, P. A.
  • Rorbach, J.
  • Vincent, A. I.
  • Rebar, E. J.
  • Minczuk, M.
(2014) EMBO Mol Med, 6, 4, 458-66

MPV17L2 is required for ribosome assembly in mitochondria

  • Dalla Rosa, I.*
  • Durigon, R.*
  • Pearce, S. F.*
  • Rorbach, J.
  • Hirst, E. M.
  • Vidoni, S.
  • Reyes, A.
  • Brea-Calvo, G.
  • Minczuk, M.
  • Woellhaf, M. W.
  • Herrmann, J. M.
  • Huynen, M. A.
  • Holt, I. J.
  • Spinazzola, A.
(2014) Nucleic Acids Res, 42, 13, 8500-15

Mitochondria: mitochondrial RNA metabolism and human disease

  • Nicholls, T. J.
  • Rorbach, J.
  • Minczuk, M.
(2013) Int J Biochem Cell Biol, 45, 4, 845-9

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

  • Kornblum, C.
  • Nicholls, T. J.
  • Haack, T. B.
  • Scholer, S.
  • Peeva, V.
  • Danhauser, K.
  • Hallmann, K.
  • Zsurka, G.
  • Rorbach, J.
  • Iuso, A.
  • Wieland, T.
  • Sciacco, M.
  • Ronchi, D.
  • Comi, G. P.
  • Moggio, M.
  • Quinzii, C. M.
  • DiMauro, S.
  • Calvo, S. E.
  • Mootha, V. K.
  • Klopstock, T.
  • Strom, T. M.
  • Meitinger, T.
  • Minczuk, M.
  • Kunz, W. S.
  • Prokisch, H.
(2013) Nat Genet, 45, 2, 214-9

Alternative translation initiation augments the human mitochondrial proteome

  • Kazak, L.
  • Reyes, A.
  • Duncan, A. L.
  • Rorbach, J.
  • Wood, S. R.
  • Brea-Calvo, G.
  • Gammage, P. A.
  • Robinson, A. J.
  • Minczuk, M.
  • Holt, I. J.
(2013) Nucleic Acids Res, 41, 4, 2354-69

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

  • Haack, T. B.
  • Kopajtich, R.
  • Freisinger, P.
  • Wieland, T.
  • Rorbach, J.
  • Nicholls, T. J.
  • Baruffini, E.
  • Walther, A.
  • Danhauser, K.
  • Zimmermann, F. A.
  • Husain, R. A.
  • Schum, J.
  • Mundy, H.
  • Ferrero, I.
  • Strom, T. M.
  • Meitinger, T.
  • Taylor, R. W.
  • Minczuk, M.
  • Mayr, J. A.
  • Prokisch, H.
(2013) Am J Hum Genet, 93, 2, 211-23

The post-transcriptional life of mammalian mitochondrial RNA

  • Rorbach, J.
  • Minczuk, M.
(2012) Biochem J, 444, 3, 357-73

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome

  • Rorbach, J.
  • Gammage, P. A.
  • Minczuk, M.
(2012) Nucleic Acids Res, 40, 9, 4097-109

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria

  • Rorbach, J.
  • Nicholls, T. J.
  • Minczuk, M.
(2011) Nucleic Acids Res, 39, 17, 7750-63

Injury and differentiation following inhibition of mitochondrial respiratory chain complex IV in rat oligodendrocytes

  • Ziabreva, I.
  • Campbell, G.
  • Rist, J.
  • Zambonin, J.
  • Rorbach, J.
  • Wydro, M. M.
  • Lassmann, H.
  • Franklin, R. J.
  • Mahad, D.
(2010) Glia, 58, 15, 1827-37

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome

  • Richter, R.
  • Rorbach, J.
  • Pajak, A.
  • Smith, P. M.
  • Wessels, H. J.
  • Huynen, M. A.
  • Smeitink, J. A.
  • Lightowlers, R. N.
  • Chrzanowska-Lightowlers, Z. M.
(2010) EMBO J, 29, 6, 1116-25

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

  • Rorbach, J.
  • Yusoff, A. A.
  • Tuppen, H.
  • Abg-Kamaludin, D. P.
  • Chrzanowska-Lightowlers, Z. M.
  • Taylor, R. W.
  • Turnbull, D. M.
  • McFarland, R.
  • Lightowlers, R. N.
(2008) Nucleic Acids Res, 36, 9, 3065-74

The human mitochondrial ribosome recycling factor is essential for cell viability

  • Rorbach, J.
  • Richter, R.
  • Wessels, H. J.
  • Wydro, M.
  • Pekalski, M.
  • Farhoud, M.
  • Kuhl, I.
  • Gaisne, M.
  • Bonnefoy, N.
  • Smeitink, J. A.
  • Lightowlers, R. N.
  • Chrzanowska-Lightowlers, Z. M.
(2008) Nucleic Acids Res, 36, 18, 5787-99

mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG

  • Soleimanpour-Lichaei, H. R.
  • Kuhl, I.
  • Gaisne, M.
  • Passos, J. F.
  • Wydro, M.
  • Rorbach, J.
  • Temperley, R.
  • Bonnefoy, N.
  • Tate, W.
  • Lightowlers, R.
  • Chrzanowska-Lightowlers, Z.
(2007) Mol Cell, 27, 5, 745-57

How do mammalian mitochondria synthesize proteins?

  • Rorbach, J.
  • Soleimanpour-Lichaei, R.
  • Lightowlers, R. N.
  • Chrzanowska-Lightowlers, Z. M.
(2007) Biochem Soc Trans, 35, Pt 5, 1290-1

*equal contribution; **corresponding author