Joanna Rorbach

Publications
Public outreach and news

Articles

Journal article: NUCLEIC ACIDS RESEARCH. 2024;:gkae645

The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches

Brischigliaro M; Kruger A; Moran JC; Antonicka H; Ahn A; Shoubridge EA; Rorbach J; Barrientos A
Article: NATURE COMMUNICATIONS. 2024;15(1):5664

GTPBP8 plays a role in mitoribosome formation in human mitochondria

Cipullo M; Gese GV; Gopalakrishna S; Krueger A; Lobo V; Pirozhkova MA; Marks J; Palenikova P; Shiriaev D; Liu Y; Misic J; Cai Y; Nguyen MD; Abdelbagi A; Li X; Minczuk M; Hafner M; Benhalevy D; Sarshad AA; Atanassov I; Hallberg BM; Rorbach J
Journal article: HUMAN MOLECULAR GENETICS. 2024;33(R1):R42-R46

Decoding the Enigma: Translation Termination in Human Mitochondria

Kruger A; Kovalchuk D; Shiriaev D; Rorbach J
Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2023;220(11):e20230101

Antigen-presenting autoreactive B cells activate regulatory T cells and suppress autoimmune arthritis in mice

Aoun M; Coelho A; Kramer A; Saxena A; Sabatier P; Beusch CM; Lonnblom E; Geng M; Do N-N; Xu Z; Zhang J; He Y; Romero Castillo L; Abolhassani H; Xu B; Viljanen J; Rorbach J; Fernandez Lahore G; Gjertsson I; Kastbom A; Sjowall C; Kihlberg J; Zubarev RA; Burkhardt H; Holmdahl R
Article: JCI INSIGHT. 2023;8(17):e167656

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations

Zhang J; Koolmeister C; Han J; Filograna R; Hanke L; Adori M; Sheward DJ; Teifel S; Gopalakrishna S; Shao Q; Liu Y; Zhu K; Harris RA; Mcinerney G; Murrell B; Aoun M; Baeckdahl L; Holmdahl R; Pekalski M; Wedell A; Engvall M; Wredenberg A; Hedestam GBK; Dopico XC; Rorbach J
Article: NUCLEIC ACIDS RESEARCH. 2023;51(2):891-907

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
Article: EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY. 2023;246:114979

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
Article: OXFORD OPEN IMMUNOLOGY. 2023;4(1):iqad003

Achieving symptom relief in patients with myalgic encephalomyelitis by targeting the neuro-immune interface and optimizing disease tolerance.

Rodriguez L; Pou C; Lakshmikanth T; Zhang J; Mugabo CH; Wang J; Mikes J; Olin A; Chen Y; Rorbach J; Juto J-E; Li TQ; Julin P; Brodin P
Article: NATURE COMMUNICATIONS. 2023;14(1):30

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

Kruger A; Remes C; Shiriaev DI; Liu Y; Spahr H; Wibom R; Atanassov I; Nguyen MD; Cooperman BS; Rorbach J
Article: METHODS IN MOLECULAR BIOLOGY. 2023;2661:217-232

Assembly of the Mitochondrial Translation Initiation Complex.

Remes C; Nguyen MD; Spahr H; Ng M; Fritsch C; Bhattacharya A; Li H; Cooperman B; Rorbach J
Article: ELIFE. 2022;11:e77460

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
Article: NATURE COMMUNICATIONS. 2022;13(1):5750

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; Spahr H; Steinmetzger C; Petzold K; Kirino Y; Wibom R; Rackham O; Filipovska A; Rorbach J; Freyer C; Wredenberg A
Article: NATURE. 2022;606(7914):603-608

Mechanism of mitoribosomal small subunit biogenesis and preinitiation

Itoh Y; Khawaja A; Laptev I; Cipullo M; Atanassov I; Sergiev P; Rorbach J; Amunts A
Article: CELLULAR IMMUNOLOGY. 2022;375:104516

Impaired plasma cell differentiation associates with increased oxidative metabolism in I?BNS-deficient B cells

Erikson E; Adori M; Khoenkhoen S; Zhang J; Rorbach J; Dopico XC; Hedestam GK
Article: JOURNAL OF INTERNAL MEDICINE. 2021;290(3):666-676

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
Article: NATURE COMMUNICATIONS. 2021;12(1):3673

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

Cipullo M; Gese GV; Khawaja A; Haellberg BM; Rorbach J
Article: NUCLEIC ACIDS RESEARCH. 2021;49(10):5798-5812

YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria

D'Souza AR; Van Haute L; Powell CA; Mutti CD; Palenikova P; Rebelo-Guiomar P; Rorbach J; Minczuk M
Article: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. 2021;1862(6):148399

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

Palenikova P; Harbour ME; Ding S; Fearnley IM; Van Haute L; Rorbach J; Scavetta R; Minczuk M; Rebelo-Guiomar P
Article: CELL REPORTS. 2021;35(4):109024

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
Article: NUCLEIC ACIDS RESEARCH. 2021;49(5):2509-2521

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
Article: NUCLEIC ACIDS RESEARCH. 2021;49(1):354-370

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

Cipullo M; Pearce SF; Sanchez IGL; Gopalakrishna S; Kruger A; Schober F; Busch JD; Li X; Wredenberg A; Atanassov I; Rorbach J
Article: METHODS IN MOLECULAR BIOLOGY. 2021;2192:183-196

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

Pearce SF; Cipullo M; Chung B; Brierley I; Rorbach J
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2020;295(44):15112-15133

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
Article: NATURE COMMUNICATIONS. 2020;11(1):2932

Distinct pre-initiation steps in human mitochondrial translation

Khawaja A; Itoh Y; Remes C; Spahr H; Yukhnovets O; Hoefig H; Amunts A; Rorbach J
Article: CELL REPORTS. 2019;29(6):1728-1738.e9

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

Busch JD; Cipullo M; Atanassov I; Bratic A; Ramos ES; Schoendorf T; Li X; Pearce SF; Milenkovic D; Rorbach J; Larsson N-G
Article: NUCLEIC ACIDS RESEARCH. 2019;47(17):9386-9399

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

Gopalakrishna S; Pearce SF; Dinan AM; Schober FA; Cipullo M; Spahr H; Khawaja A; Maffezzini C; Freyer C; Wredenberg A; Atanassov I; Firth AE; Rorbach J
Article: DEVELOPMENTAL CELL. 2018;44(4):484-499.e6

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
Article: HUMAN MOLECULAR GENETICS. 2017;26(21):4257-4266

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
Article: SCIENTIFIC REPORTS. 2017;7(1):12886

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
Article: NATURE STRUCTURAL & MOLECULAR BIOLOGY. 2017;24(10):866-869

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
Article: ELIFE. 2017;6:e27596

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
Article: BIOCHEMICAL JOURNAL. 2017;474(13):2145-2158

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
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2016;113(43):12198-12201

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
Article: NUCLEIC ACIDS RESEARCH. 2016;44(16):7804-7816

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 J-P; Frezza C; Minczuk M
Article: NATURE COMMUNICATIONS. 2016;7:12039

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
Article: MBIO. 2016;7(2):e00029-10.1128/mbio.00016

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
Journal article: NUCLEIC ACIDS RESEARCH. 2016;44(2):992

C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome (vol 40, pg 4097, 2012)

Rorbach J; Gammage PA; Minczuk M
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;97(2):319-328

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

Powel CA; Kopajtich R; D'Souza AR; Rorbach J; Kremer LS; Husain RA; Dallabona C; Donnini C; Alston CL; Griffin H; Pyle A; Chinnery PF; Strom TM; Meitinger T; Rodenburg RJ; Schottmann G; Schuelke M; Romain N; Haller RG; Ferrero I; Haack TB; Taylor RW; Prokisch H; Minczukl M
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(6):708-720

Mutations in GTPBP3 Cause a Mitochondria! Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

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; Invemizzi 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; de Camaret BM; Chretien D; Munnich A; Menten B; Sante T; Smet J; Regal L; Lorber A; Khoury A; Zeviani M; Strom TM; Meitinger T; Bertini ES; Van Coster R; Klopstock T; Roetig A; Haack TB; Minczuk M; Prokisch H
Article: MOLECULAR BIOLOGY OF THE CELL. 2014;25(17):2542-2555

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

Rorbach J; Boesch P; Gammage PA; Nicholls TJJ; Pearce SF; Patel D; Hauser A; Perocchi F; Minczuk M
Article: NUCLEIC ACIDS RESEARCH. 2014;42(13):8500-8515

MPV17L2 is required for ribosome assembly in mitochondria

Dalla Rosa I; Durigon R; Pearce SF; Rorbach J; Hirst EMA; Vidoni S; Reyes A; Brea-Calvo G; Minczuk M; Woellhaf MW; Herrmann JM; Huynen MA; Holt IJ; Spinazzola A
Article: EMBO MOLECULAR MEDICINE. 2014;6(4):458-466

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

Gammage PA; Rorbach J; Vincent AI; Rebar EJ; Minczuk M
Article: METHODS IN MOLECULAR BIOLOGY. 2014;1125:211-227

Polyadenylation in bacteria and organelles.

Rorbach J; Bobrowicz A; Pearce S; Minczuk M
Article: PLOS ONE. 2014;9(4):e93597

Amino Acid Starvation Has Opposite Effects on Mitochondrial and Cytosolic Protein Synthesis

Johnson MA; Vidoni S; Durigon R; Pearce SF; Rorbach J; He J; Brea-Calvo G; Minczuk M; Reyes A; Holt IJ; Spinazzola A
Journal article: NEUROMUSCULAR DISORDERS. 2013;23(9-10):852

O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder

Kornblum C; Nicholls T; Haack TB; Schoeler S; Peeva V; Danhauser K; Hallmann K; Zsurka G; Rorbach J; Iuso A; Wieland T; Sciacco M; Ronchi D; Comi GP; Moggio M; Quinzii CM; DiMauro S; Calvo SE; Mootha VK; Klopstock T; Strom TM; Meitinger T; Minczuk M; Kunz WS; Prokisch H
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(2):211-223

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Haack TB; Kopajtich R; Freisinger P; Wieland T; Rorbach J; Nicholls TJ; Baruffini E; Walther A; Danhauser K; Zimmermann FA; Husain RA; Schum J; Mundy H; Ferrero I; Strom TM; Meitinger T; Taylor RW; Minczuk M; Mayr JA; Prokisch H
Article: INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY. 2013;45(4):845-849

Mitochondria: Mitochondrial RNA metabolism and human disease

Nicholls TJ; Rorbach J; Minczuk M
Article: NATURE GENETICS. 2013;45(2):214-219

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

Kornblum C; Nicholls TJ; Haack TB; Schoeler S; Peeva V; Danhauser K; Hallmann K; Zsurka G; Rorbach J; Iuso A; Wieland T; Sciacco M; Ronchi D; Comi GP; Moggio M; Quinzii CM; DiMauro S; Calvo SE; Mootha VK; Klopstock T; Strom TM; Meitinger T; Minczuk M; Kunz WS; Prokisch H
Article: NUCLEIC ACIDS RESEARCH. 2013;41(4):2354-2369

Alternative translation initiation augments the human mitochondrial proteome

Kazak L; Reyes A; Duncan AL; Rorbach J; Wood SR; Brea-Calvo G; Gammage PA; Robinson AJ; Minczuk M; Holt IJ
Article: NUCLEIC ACIDS RESEARCH. 2012;40(9):4097-4109

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

Rorbach J; Gammage PA; Minczuk M
Article: NUCLEIC ACIDS RESEARCH. 2011;39(17):7750-7763

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

Rorbach J; Nicholls TJJ; Minczuk M
Article: GLIA. 2010;58(15):1827-1837

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 MM; Lassmann H; Franklin RJM; Mahad D
Article: EMBO JOURNAL. 2010;29(6):1116-1125

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

Richter R; Rorbach J; Pajak A; Smith PM; Wessels HJ; Huynen MA; Smeitink JA; Lightowlers RN; Chrzanowska-Lightowlers ZM
Article: NUCLEIC ACIDS RESEARCH. 2008;36(18):5787-5799

The human mitochondrial ribosome recycling factor is essential for cell viability

Rorbach J; Richter R; Wessels HJ; Wydro M; Pekalski M; Farhoud M; Kuehl I; Gaisne M; Bonnefoy N; Smeitink JA; Lightowlers RN; Chrzanowska-Lightowlers ZMA
Article: NUCLEIC ACIDS RESEARCH. 2008;36(9):3065-3074

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

Rorbach J; Yusoff AA; Tuppen H; Abg-Kamaludin DP; Chrzanowska-Lightowlers ZMA; Taylor RW; Turnbull DM; McFarland R; Lightowlers RN
Article: MOLECULAR CELL. 2007;27(5):745-757

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

Soleimanpour-Lichaei HR; Khul I; Gaisne M; Passos JF; Wydro M; Rorbach J; Temperley R; Bonnefoy N; Tate W; Lightowlers R; Chrzanowska-Lightowlers Z
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Corrigendum: JOURNAL OF EXPERIMENTAL MEDICINE. 2023;220(11):e2023010109212023c

Antigen-presenting autoreactive B cells activate regulatory T cells and suppress autoimmune arthritis in mice ( vol 220 , e20230101 , 2023)

Aoun M; Coelho A; Kramer A; Saxena A; Sabatier P; Beusch CM; Lonnblom E; Geng M; Do N-N; Xu Z; Zhang J; He Y; Castillo LR; Abolhassani H; Xu B; Viljanen J; Rorbach J; Lahore GF; Gjertsson I; Kastbom A; Sjowall C; Kihlberg J; Zubarev RA; Burkhardt H; Holmdahl R
Review: TRENDS IN BIOCHEMICAL SCIENCES. 2023;48(7):629-641

Insights into mitoribosomal biogenesis from recent structural studies

Khawaja A; Cipullo M; Krueger A; Rorbach J
Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021;22(8):3827

Human Mitoribosome Biogenesis and Its Emerging Links to Disease

Lopez Sanchez MIG; Kruger A; Shiriaev DI; Liu Y; Rorbach J
Review: FRONTIERS IN GENETICS. 2020;11:761

Methylation of Ribosomal RNA: A Mitochondrial Perspective

Sanchez MIGL; Cipullo M; Gopalakrishna S; Khawaja A; Rorbach J
Review: RNA BIOLOGY. 2017;14(12):1668-1671

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

Chrzanowska-Lightowlers Z; Rorbach J; Minczuk M
Editorial comment: NATURE STRUCTURAL & MOLECULAR BIOLOGY. 2017;24(11):879-881

Ribosome origami

Rorbach J; Aibara S; Amunts A
Review: BIOCHEMICAL JOURNAL. 2012;444(3):357-373

The post-transcriptional life of mammalian mitochondrial RNA

Rorbach J; Minczuk M
Published conference paper: BIOCHEMICAL SOCIETY TRANSACTIONS. 2007;35(Pt 5):1290-1291

How do mammalian mitochondria synthesize proteins?

Rorbach J; Soleimanpour-Lichaei R; Lightowlers RN; Chrzanowska-Lightowlers ZMA

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