Welcome to the
Rorbach lab
About the group

Research projects

The central theme of the Rorbach lab is the molecular control of mitochondrial gene expression and its influence on physiology. We use genetic, proteomic, single-molecule and cryo-EM methods to reveal mechanisms and to identify novel factors involved in mitochondrial RNA metabolism. These interdisciplinary approaches help us to explore a poorly-understood area of mitochondrial biology with direct relevance to human health.

Mitochondrial RNA metabolism
Regulation of mitoribosome biogenesis
Protein synthesis in mitochondria
Mitochondrial gene expression in disease

Group members


Joanna Rorbach

Dr. Joanna Rorbach

Group leader

Miriam Cipullo

Miriam Cipullo

PhD student

Shreekara Gopalakrishna

Shreekara Gopalakrishna

PhD student

Anas Khawaja

Dr. Anas Khawaja

Postdoc

Annika Krüger

Dr. Annika Krüger

Postdoc

Yong Liu

Dr. Yong Liu

Postdoc

Minh Duc Nguyen

Dr. Minh Duc Nguyen

Postdoc

Dmitrii Shiriaev

Dmitrii Shiriaev

PhD student

Jingdian Zhang

Jingdian Zhang

PhD student

Qiuya Shao

Qiuya Shao

PhD student

News

Recent publications

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
*joint first authors; #corresponding authors

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
#corresponding author

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
#corresponding authors

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
#corresponding authors

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
*joint first authors; #corresponding authors

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
#corresponding author

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
#corresponding author

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
*authors with equal contributions; #corresponding author

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
*joint first authors; #corresponding authors

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
#corresponding author

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
#corresponding authors

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
*joint first authors; #corresponding authors

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


Full list of publications can be found here.

Funding

We are grateful for the support:

  • Karolinska Institute

  • Max Planck Institute for Biology of Ageing

  • Knut and Alice Wallenberg Foundation

  • Wenner-Gren Foundation

  • Marie Curie Actions - Swedish Research Council

  • EMBO