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.
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A new study describing several stages of mitoribosomal small subunit biogenesis is now out in Nature. Congratulations to Anas and Yuzuru and everyone else involved! Great collaboration with Amunts lab
Fanny is joining our group as a summer student, working on mitochondrial gene expression regulation with a focus on RNA-binding proteins in mitochondria. Welcome!
Great collaboration with Karlsson Hedestam lab. Congratulations everyone!
Yu is joining us as an internship master student. Working with Miriam, his research will be focused on mitoribosome assembly. Welcome!
Starting in early 2022, Abubakar will be working on the quality control systems in mitochondrial translation as a research assistant.
Congratulations to Jing for being awarded the best poster prize at the EMBO workshop in Girona "Mitochondrial homeostasis and human disease."
Congratulations to Annika for receiving a prestigious DGF fellowship that will support her studies on mitochondrial quality control mechanisms.
Pratikiran is joining our group as a summer student. Together with Shree, she received the DAAD-BARI scholarship and will work on mitochondrial RNA metabolism. Welcome!
Our study describing the sequence of events leading to maturation of mitoribosomal large subunit is finally out in Nature Communications. Congratulations to Miriam and Genis! Great collaboration with Hällberg lab.
Congratulations to Aaron and others. We have started YbeY characterization a long time ago and it is great to see it finally in print!
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
* joint first authors, # corresponding authors
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
#corresponding author
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