The mitochondrial methylation potential gates mitoribosome assembly
Ruth I C Glasgow # 1, Vivek Singh # 1 2, Lucía Peña-Pérez 3 4, Alissa Wilhalm 1, Marco F Moedas 1 3, David Moore 1, Florian A Rosenberger 1 4, Xinping Li 5, Ilian Atanassov 5, Mira Saba 1, Miriam Cipullo 1, Joanna Rorbach 1, Anna Wedell 3 4, Christoph Freyer 6 7, Alexey Amunts 8 9, Anna Wredenberg 10 11. Nature Communications 2025 Jun 25;16(1):5388. doi: 10.1038/s41467-025-60977-x.
# Contributed equally

T cell toxicity induced by tigecycline binding to the mitochondrial ribosome
Qiuya Shao*, Anas Khawaja, Minh Duc Nguyen*, Vivek Singh, Jingdian Zhang, Yong Liu , Joel Nordin, Monika Adori, C Axel Innis, Xaquin Castro Dopico#, Joanna Rorbach#. Nature Communications Nat Commun . 2025 May 1;16(1):4080. doi: 10.1038/s41467-025-59388-9.

The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches
Michele Brischigliaro*, Annika Krüger*, J Conor Moran, Hana Antonicka, Ahram Ahn, Eric A Shoubridge, Joanna Rorbach#, Antoni Barrientos# . Nucleic Acid Research 22 July 2024; 10.1093/nar/gkae645

GTPBP8 plays a role in mitoribosome formation in human mitochondria
Miriam Cipullo, Genís Valentín Gesé, Shreekara Gopalakrishna, Annika Krueger, Vivian Lobo, Maria A. Pirozhkova, James Marks, Petra Páleníková, Dmitrii Shiriaev, Yong Liu, Jelena Misic, Yu Cai, Minh Duc Nguyen, Abubakar Abdelbagi, Xinping Li, Michal Minczuk, Markus Hafner, Daniel Benhalevy, Aishe A. Sarshad, Ilian Atanassov, B. Martin Hällberg & Joanna Rorbach#. Nature Communications 15, Article number: 5664 (2024)

Decoding the Enigma: Translation Termination in Human Mitochondria
Annika Krüger#, Daria Kovalchuk, Dmitrii Shiriaev, Joanna Rorbach. Human Molecular Genetics Volume 33, Issue R1, 1 June 2024, Pages R42–R46
# corresponding author

Antigen-presenting autoreactive B cells activate regulatory T cells and suppress autoimmune arthritis in mice
Aoun M, Coelho A, Krämer A, Saxena A, Sabatier P, Beusch CM, Lönnblom E, Geng M, Nhu-Nguyen Do, Xu Z, Zhang J, He Y, Romero Castillo L, Abolhassani H, Xu B, Viljanen J, Rorbach J, Fernandez Lahore G, Gjertsson I, Kastbom A, Sjöwall C, Kihlberg J, Zubarev RA, Burkhardt H, Holmdahl R. J Exp Med 2023 Nov 6;220(11):e20230101

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations
Zhang J, Koolmeister C, Han J, Filograna R, Hanke L, Àdori M, Sheward JD, Teifel S, Gopalakrishna S, Shao Q, Liu Y, Zhu K, Harris RA, McInerney G, Murrell B, Aoun M, Bäckdahl L, Holmdahl R, Pekalski M, Wedell A, Engvall M, Wredenberg A, Karlsson Hedestam GB, Castro-Dopico X#, and Rorbach J#. JCI insights 2023;8(17):e167656

Insights into mitoribosomal biogenesis from recent structural studies
Khawaja A, Cipullo M, Krüger A, Rorbach J#. Trends in Biochemical Sciences 2023 May 9
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Translation initiation of leaderless and polycistronic transcripts in mammalian mitochondria.
Remes C*, Khawaja A*, Pearce SF, Dinan AM, Gopalakrishna S, Cipullo M, Kyriakidis V, Zhang J, Dopico XC, Yukhnovets O, Atanassov I, Firth AE, Cooperman B, Rorbach J#. Nucleic Acids Research 2023 Jan 11:gkac1233
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Human mitochondria require mtRF1 for translation termination at non-canonical stop codons
Krüger A, Remes C, Shiriaev DI, Liu Y, Spåhr H, Wibom R, Atanassov I, Nguyen MD, Cooperman BS, Rorbach J#. Nature Communications 2023 Jan 3;14(1):30.
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Streptogramin A derivatives as mitochondrial translation inhibitors to suppress glioblastoma stem cell growth
Sighel D#, Battistini G, Rosatti EF, Vigna J, Pavan M, Belli R, Peroni D, Alessandrini F, Longhi S, Pancher M, Rorbach J, Moro S, Quattrone A, Mancini I#. European Journal of Medicinal Chemistry 2023 Jan 15;246:114979
#corresponding authors

Structure of the mitoribosomal small subunit with streptomycin reveals Fe-S clusters and physiological molecules
Itoh Y*, Singh V*, Khawaja A*, Naschberger A, Nguyen MD, Rorbach J#, Amunts A#. Elife 2022 Dec 8;11:e77460
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ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing
Clemente P#, Calvo-Garrido J, Pearce SF, Schober FA, Shigematsu M, Siira SJ, Laine I, Spåhr H, Steinmetzger C, Petzold K, Kirino Y, Wibom R, Rackham O, Filipovska A, Rorbach J, Freyer C*#, Wredenberg A*#. Nature Communications 2022 Sep 30;13(1):5750
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Mechanism of mitoribosomal small subunit biogenesis and preinitiation.
Itoh Y*, Khawaja A*, Laptev I, Cipullo M, Atanassov I, Sergiev P, Rorbach J#, Amunts A#.. Nature doi: 10.1038/s41586-022-04795-x
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Impaired plasma cell differentiation associates with increased oxidative metabolism in IkBNS-deficient B cells
Erikson E, Ádori M, Khoenkhoen S, Zhang J, Rorbach J, Castro Dopico X, Karlsson Hedestam G#. Cellular Immunology 2022 Apr 4;375:104516
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Structural basis for late maturation steps of the human mitoribosomal large subunit
Cipullo M*, Gesé GV*, Khawaja A, Hällberg BM#, Rorbach J#. Nature Communications 2021 Jun 16;12(1):3673
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YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria
D'Souza AR, Van Haute L, Powell CA, Mutti CD, Páleníková P, Rebelo-Guiomar P, Rorbach J, Minczuk M. Nucleic Acids Research 2021 May 25:gkab404
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Seropositivity in blood donors and pregnant women during the first year of SARS-CoV-2 transmission in Stockholm, Sweden
Castro Dopico X#, Muschiol S, Christian M, Hanke L, Sheward DJ, Grinberg NF, Rorbach J, Bogdanovic G, Mcinerney GM, Allander T, Wallace C, Murrell B, Albert J, Karlsson Hedestam GB#. Journal of Internal Medicine 2021 May 18
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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 EF, Longhi S, Buccarelli M, D'Alessandris QG, Giannetti S, Pacioni S, Ricci-Vitiani L, Rorbach J, Pallini R, Roulland S, Amunts A, Mancini I, Modelska A#, Quattrone A#. Cell Reports 2021 Apr 27;35(4):109024
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Human Mitoribosome Biogenesis and Its Emerging Links to Disease
Lopez Sanchez MIG*#, Krüger A*, Shiriaev DI, Liu Y, Rorbach J#. International Journal of Molecular Sciences 2021 Apr 7;22(8):3827
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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 OC, Bullova P, Rorbach J, Juhlin CC, Stenman A, Larsson C, Kogner P, O'Sullivan MJ, Schlisio S, Holmberg J#. Nucleic Acids Research 2021 Mar 18;49(5):2509-2521
#corresponding authors

Quantitative density gradient analysis by mass spectrometry (qDGMS) and complexome profiling analysis (ComPrAn) R package for the study of macromolecular complexes
Páleníková P, Harbour ME, Ding S, Fearnley IM, Van Haute L, Rorbach J, Scavetta R, Minczuk M#, Rebelo-Guiomar P#. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2021 Jun 1;1862(6):148399
#corresponding authors

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly
Cipullo M, Pearce SF, Lopez Sanchez IG, Gopalakrishna S, Krüger A, Schober F, Busch JD, Li X, Wredenberg A, Atanassov I, Rorbach J#. Nucleic Acids Research 2021 Jan 11;49(1):354-370
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Mitoribosome Profiling from Human Cell Culture: A High Resolution View of Mitochondrial Translation
Pearce SF, Cipullo M, Chung B, Brierley I, Rorbach J#. Methods in Molecular Biology 2021;2192:183-196
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Differential processing and localization of human Nocturnin controls metabolism of mRNA and nicotinamide adenine dinucleotide cofactors
Abshire ET, Hughes KL*, Diao R*, Pearce S*, Gopalakrishna S, Trievel RC, Rorbach J, Freddolino PL, Goldstrohm AC#. Journal of Biological Chemistry 2020 Oct 30;295(44):15112-15133
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Methylation of Ribosomal RNA: A Mitochondrial Perspective
Lopez Sanchez MIG#, Cipullo M, Gopalakrishna S, Khawaja A, Rorbach J#. Frontiers in Genetics 2020 Jul 17;11:761
#corresponding authors

Distinct pre-initiation steps in human mitochondrial translation
Khawaja A*, Itoh Y*, Remes C, Spåhr H, Yukhnovets O, Höfig H, Amunts A#, Rorbach J#. Nature Communications 2020 Jun 10;11(1):2932
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MitoRibo-Tag Mice Provide a Tool for In Vivo Studies of Mitoribosome Composition
Busch JD, Cipullo M, Atanassov I, Bratic A, Silva Ramos E, Schöndorf T, Li X, Pearce SF, Milenkovic D, Rorbach J#, Larsson NG#. Cell Reports 2019 Nov 5;29(6):1728-1738.e9
#corresponding authors

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis
Gopalakrishna S*, Pearce SF*, Dinan AM, Schober FA, Cipullo M, Spåhr H, Khawaja A, Maffezzini C, Freyer C, Wredenberg A, Atanassov I, Firth AE, Rorbach J#. Nucleic Acids Research 2019 Sep 26;47(17):9386-9399
*joint first authors; #corresponding author

Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria
Kruppa AJ#, Kishi-Itakura C, Masters TA, Rorbach JE, Grice GL, Kendrick-Jones J, Nathan JA, Minczuk M, Buss F#. Developmental Cell 2018 Feb 26;44(4):484-499.e6
#corresponding authors

Ribosome origami
Rorbach J, Aibara S, Amunts A#. Nature Structural & Molecular Biology 2017 Nov 7;24(11):879-881
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Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Garone C#, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M#. Human Molecular Genetics 2017 Nov 1;26(21):4257-4266
#corresponding authors

Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells
Patel D#, Rorbach J, Downes K, Szukszto MJ, Pekalski ML, Minczuk M#. Scientific Reports 2017 Oct 10;7(1):12886
#corresponding authors

Human mitochondrial ribosomes can switch structural tRNAs - but when and why?
Chrzanowska-Lightowlers Z#, Rorbach J, Minczuk M#. RNA Biology 2017 Dec 2;14(12):1668-1671
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Structures of the human mitochondrial ribosome in native states of assembly
Brown A, Rathore S, Kimanius D, Aibara S, Bai XC, Rorbach J, Amunts A#, Ramakrishnan V#. Nature Structural & Molecular Biology 2017 Oct;24(10):866-869
#corresponding authors

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

The human RNA-binding protein RBFA promotes the maturation of the mitochondrial ribosome
Rozanska A, Richter-Dennerlein R, Rorbach J, Gao F, Lewis RJ, Chrzanowska-Lightowlers ZM#, Lightowlers RN#. Biochemical Journal 2017 Jun 13;474(13):2145-2158
#corresponding authors

Human mitochondrial ribosomes can switch their structural RNA composition
Rorbach J*, Gao F*, Powell CA, D'Souza A, Lightowlers RN, Minczuk M#, Chrzanowska-Lightowlers ZM#. PNAS 2016 Oct 25;113(43):12198-12201
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Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs
Gammage PA#, Gaude E, Van Haute L, Rebelo-Guiomar P, Jackson CB, Rorbach J, Pekalski ML, Robinson AJ, Charpentier M, Concordet JP, Frezza C, Minczuk M#. Nucleic Acids Research 2016 Sep 19;44(16):7804-16
#corresponding authors

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#. Nature Communications 2016 Jun 30;7:12039
#corresponding authors

Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries
Karniely S#, Weekes MP, Antrobus R, Rorbach J, van Haute L, Umrania Y, Smith DL, Stanton RJ, Minczuk M, Lehner PJ, Sinclair JH. mBio 2016 Mar 29;7(2):e00029
#corresponding author

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome
Rorbach J, Gammage PA, Minczuk M#. Nucleic Acids Research 2016 Jan 29;44(2):992
#corresponding author