| Year |
Citation |
Score |
| 2024 |
Keshavan N, Minczuk M, Viscomi C, Rahman S. Gene therapy for mitochondrial disorders. Journal of Inherited Metabolic Disease. 47: 145-175. PMID 38171948 DOI: 10.1002/jimd.12699 |
0.351 |
|
| 2023 |
Páleníková P, Minczuk M, Rebelo-Guiomar P. Protocol to study human mitochondrial ribosome using quantitative density gradient analysis by mass spectrometry and complexome profiling analysis. Star Protocols. 4: 102605. PMID 37976156 DOI: 10.1016/j.xpro.2023.102605 |
0.338 |
|
| 2023 |
Rey T, Tábara LC, Prudent J, Minczuk M. mtFociCounter for automated single-cell mitochondrial nucleoid quantification and reproducible foci analysis. Nucleic Acids Research. PMID 37850644 DOI: 10.1093/nar/gkad864 |
0.569 |
|
| 2023 |
Poquérusse J, Nolan M, Thorburn DR, Van Hove JLK, Friederich MW, Love DR, Taylor J, Powell CA, Minczuk M, Snell RG, Lehnert K, Glamuzina E, Jacobsen JC. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of -related mitochondrial disease. Jimd Reports. 64: 223-232. PMID 37151360 DOI: 10.1002/jmd2.12360 |
0.514 |
|
| 2023 |
Nash PA, Silva-Pinheiro P, Minczuk MA. Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing. Journal of Visualized Experiments : Jove. PMID 36847373 DOI: 10.3791/64361 |
0.534 |
|
| 2023 |
Burr SP, Klimm F, Glynos A, Prater M, Sendon P, Nash P, Powell CA, Simard ML, Bonekamp NA, Charl J, Diaz H, Bozhilova LV, Nie Y, Zhang H, Frison M, ... ... Minczuk M, et al. Cell lineage-specific mitochondrial resilience during mammalian organogenesis. Cell. PMID 36827974 DOI: 10.1016/j.cell.2023.01.034 |
0.641 |
|
| 2023 |
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, ... ... Minczuk M, et al. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications. 14: 1009. PMID 36823193 DOI: 10.1038/s41467-023-36277-7 |
0.691 |
|
| 2023 |
Nash PA, Minczuk M. Manipulation of Murine Mitochondrial DNA Heteroplasmy with mtZFNs. Methods in Molecular Biology (Clifton, N.J.). 2615: 329-344. PMID 36807802 DOI: 10.1007/978-1-0716-2922-2_23 |
0.635 |
|
| 2022 |
Silva-Pinheiro P, Mutti CD, Van Haute L, Powell CA, Nash PA, Turner K, Minczuk M. A library of base editors for the precise ablation of all protein-coding genes in the mouse mitochondrial genome. Nature Biomedical Engineering. PMID 36470976 DOI: 10.1038/s41551-022-00968-1 |
0.624 |
|
| 2022 |
Willis JCW, Silva-Pinheiro P, Widdup L, Minczuk M, Liu DR. Compact zinc finger base editors that edit mitochondrial or nuclear DNA in vitro and in vivo. Nature Communications. 13: 7204. PMID 36418298 DOI: 10.1038/s41467-022-34784-7 |
0.341 |
|
| 2022 |
Falabella M, Minczuk M, Hanna MG, Viscomi C, Pitceathly RDS. Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges. Nature Reviews. Neurology. 18: 689-698. PMID 36257993 DOI: 10.1038/s41582-022-00715-9 |
0.481 |
|
| 2022 |
Tan BG, Mutti CD, Shi Y, Xie X, Zhu X, Silva-Pinheiro P, Menger KE, Díaz-Maldonado H, Wei W, Nicholls TJ, Chinnery PF, Minczuk M, Falkenberg M, Gustafsson CM. The human mitochondrial genome contains a second light strand promoter. Molecular Cell. PMID 36044900 DOI: 10.1016/j.molcel.2022.08.011 |
0.811 |
|
| 2022 |
Rebelo-Guiomar P, Pellegrino S, Dent KC, Sas-Chen A, Miller-Fleming L, Garone C, Van Haute L, Rogan JF, Dinan A, Firth AE, Andrews B, Whitworth AJ, Schwartz S, Warren AJ, Minczuk M. A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit. Nature Communications. 13: 929. PMID 35177605 DOI: 10.1038/s41467-022-28503-5 |
0.601 |
|
| 2022 |
Silva-Pinheiro P, Nash PA, Van Haute L, Mutti CD, Turner K, Minczuk M. In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue. Nature Communications. 13: 750. PMID 35136065 DOI: 10.1038/s41467-022-28358-w |
0.62 |
|
| 2021 |
Silva-Pinheiro P, Minczuk M. The potential of mitochondrial genome engineering. Nature Reviews. Genetics. PMID 34857922 DOI: 10.1038/s41576-021-00432-x |
0.572 |
|
| 2021 |
Schöller E, Marks J, Marchand V, Bruckmann A, Powell CA, Reichold M, Mutti CD, Dettmer K, Feederle R, Hüttelmaier S, Helm M, Oefner P, Minczuk M, Motorin Y, Hafner M, et al. Balancing of mitochondrial translation through METTL8-mediated mC modification of mitochondrial tRNAs. Molecular Cell. PMID 34774131 DOI: 10.1016/j.molcel.2021.10.018 |
0.644 |
|
| 2021 |
Ohkubo A, Van Haute L, Rudler DL, Stentenbach M, Steiner FA, Rackham O, Minczuk M, Filipovska A, Martinou JC. The FASTK family proteins fine-tune mitochondrial RNA processing. Plos Genetics. 17: e1009873. PMID 34748562 DOI: 10.1371/journal.pgen.1009873 |
0.503 |
|
| 2021 |
D'Souza AR, Van Haute L, Powell CA, Mutti CD, Páleníková P, Rebelo-Guiomar P, Rorbach J, Minczuk M. YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria. Nucleic Acids Research. PMID 34037799 DOI: 10.1093/nar/gkab404 |
0.834 |
|
| 2021 |
Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, et al. DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Research. PMID 33956154 DOI: 10.1093/nar/gkab282 |
0.417 |
|
| 2021 |
Páleníková P, Harbour ME, Ding S, Fearnley IM, Van Haute L, Rorbach J, Scavetta R, Minczuk M, Rebelo-Guiomar P. Quantitative density gradient analysis by mass spectrometry (qDGMS) and complexome profiling analysis (ComPrAn) R package for the study of macromolecular complexes. Biochimica Et Biophysica Acta. Bioenergetics. 1862: 148399. PMID 33592209 DOI: 10.1016/j.bbabio.2021.148399 |
0.683 |
|
| 2020 |
Desai N, Yang H, Chandrasekaran V, Kazi R, Minczuk M, Ramakrishnan V. Elongational stalling activates mitoribosome-associated quality control. Science (New York, N.Y.). 370: 1105-1110. PMID 33243891 DOI: 10.1126/science.abc7782 |
0.356 |
|
| 2020 |
Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RD, ... ... Minczuk M, et al. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. The Embo Journal. e105364. PMID 33128823 DOI: 10.15252/embj.2020105364 |
0.501 |
|
| 2020 |
Jackson CB, Turnbull DM, Minczuk M, Gammage PA. Therapeutic Manipulation of mtDNA Heteroplasmy: A Shifting Perspective. Trends in Molecular Medicine. 26: 698-709. PMID 32589937 DOI: 10.1016/J.Molmed.2020.02.006 |
0.883 |
|
| 2020 |
Di Nottia M, Marchese M, Verrigni D, Mutti CD, Torraco A, Oliva R, Fernandez-Vizarra E, Morani F, Trani G, Rizza T, Ghezzi D, Ardissone A, Nesti C, Vasco G, Zeviani M, ... Minczuk M, et al. A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly. Neurobiology of Disease. 141: 104880. PMID 32344152 DOI: 10.1016/J.Nbd.2020.104880 |
0.639 |
|
| 2020 |
Bacman SR, Gammage PA, Minczuk M, Moraes CT. Manipulation of mitochondrial genes and mtDNA heteroplasmy. Methods in Cell Biology. 155: 441-487. PMID 32183972 DOI: 10.1016/Bs.Mcb.2019.12.004 |
0.881 |
|
| 2020 |
Powell CA, Minczuk M. TRMT2B is responsible for both tRNA and rRNA mU-methylation in human mitochondria. Rna Biology. 1-12. PMID 31948311 DOI: 10.1080/15476286.2020.1712544 |
0.552 |
|
| 2020 |
Baxter M, Voronkov M, Poolman T, Galli G, Pinali C, Goosey L, Knight A, Krakowiak K, Maidstone R, Iqbal M, Zi M, Prehar S, Cartwright EJ, Gibbs J, Matthews LC, ... ... Minczuk M, et al. Cardiac mitochondrial function depends on BUD23 mediated ribosome programming. Elife. 9. PMID 31939735 DOI: 10.7554/Elife.50705 |
0.68 |
|
| 2019 |
Van Haute L, Hendrick AG, D'Souza AR, Powell CA, Rebelo-Guiomar P, Harbour ME, Ding S, Fearnley IM, Andrews B, Minczuk M. METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis. Nucleic Acids Research. 47: 10267-10281. PMID 31665743 DOI: 10.1093/Nar/Gkz735 |
0.668 |
|
| 2019 |
Andreazza S, Samstag CL, Sanchez-Martinez A, Fernandez-Vizarra E, Gomez-Duran A, Lee JJ, Tufi R, Hipp MJ, Schmidt EK, Nicholls TJ, Gammage PA, Chinnery PF, Minczuk M, Pallanck LJ, Kennedy SR, et al. Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila. Nature Communications. 10: 3280. PMID 31337756 DOI: 10.1038/S41467-019-10857-Y |
0.849 |
|
| 2019 |
Van Haute L, Lee SY, McCann BJ, Powell CA, Bansal D, Vasiliauskaitė L, Garone C, Shin S, Kim JS, Frye M, Gleeson JG, Miska EA, Rhee HW, Minczuk M. NSUN2 introduces 5-methylcytosines in mammalian mitochondrial tRNAs. Nucleic Acids Research. PMID 31276587 DOI: 10.1093/Nar/Gkz559 |
0.724 |
|
| 2019 |
Nieminuszczy J, Broderick R, Bellani MA, Smethurst E, Schwab RA, Cherdyntseva V, Evmorfopoulou T, Lin YL, Minczuk M, Pasero P, Gagos S, Seidman MM, Niedzwiedz W. EXD2 Protects Stressed Replication Forks and Is Required for Cell Viability in the Absence of BRCA1/2. Molecular Cell. PMID 31255466 DOI: 10.1016/J.Molcel.2019.05.026 |
0.345 |
|
| 2019 |
Hoitzing H, Gammage PA, Haute LV, Minczuk M, Johnston IG, Jones NS. Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations. Plos Computational Biology. 15: e1007023. PMID 31242175 DOI: 10.1371/Journal.Pcbi.1007023 |
0.831 |
|
| 2019 |
Park J, Lee SY, Jeong H, Kang MG, Van Haute L, Minczuk M, Seo JK, Jun Y, Myung K, Rhee HW, Lee C. The structure of human EXD2 reveals a chimeric 3' to 5' exonuclease domain that discriminates substrates via metal coordination. Nucleic Acids Research. PMID 31127291 DOI: 10.1093/Nar/Gkz454 |
0.393 |
|
| 2019 |
Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen P, Bratkovic D, Carrozzo R, Donati MA, Nottia MD, Ghezzi D, ... ... Minczuk M, et al. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human Mutation. PMID 31045291 DOI: 10.1002/Humu.23777 |
0.731 |
|
| 2019 |
Nissanka N, Minczuk M, Moraes CT. Mechanisms of Mitochondrial DNA Deletion Formation. Trends in Genetics : Tig. PMID 30691869 DOI: 10.1016/J.Tig.2019.01.001 |
0.65 |
|
| 2019 |
Baxter M, Voronkov M, Poolman T, Galli G, Pinali C, Goosey L, Knight A, Krakowiak K, Maidstone R, Iqbal M, Zi M, Prehar S, Cartwright EJ, Gibbs J, Matthews LC, ... ... Minczuk M, et al. Author response: Cardiac mitochondrial function depends on BUD23 mediated ribosome programming Elife. DOI: 10.7554/Elife.50705.Sa2 |
0.509 |
|
| 2018 |
Rebelo-Guiomar P, Powell CA, Van Haute L, Minczuk M. The mammalian mitochondrial epitranscriptome. Biochimica Et Biophysica Acta. Gene Regulatory Mechanisms. PMID 30529456 DOI: 10.1016/J.Bbagrm.2018.11.005 |
0.701 |
|
| 2018 |
de Brouwer APM, Abou Jamra R, Körtel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, ... ... Minczuk M, et al. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. American Journal of Human Genetics. 103: 1045-1052. PMID 30526862 DOI: 10.1016/J.Ajhg.2018.10.026 |
0.334 |
|
| 2018 |
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, ... ... Minczuk M, et al. Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature Communications. 9: 4065. PMID 30283131 DOI: 10.1038/S41467-018-06250-W |
0.684 |
|
| 2018 |
Gammage PA, Viscomi C, Simard ML, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB, ... Minczuk M, et al. Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo. Nature Medicine. PMID 30250142 DOI: 10.1038/S41591-018-0165-9 |
0.877 |
|
| 2018 |
McCann BJ, Cox A, Gammage PA, Stewart JB, Zernicka-Goetz M, Minczuk M. Delivery of mtZFNs into Early Mouse Embryos. Methods in Molecular Biology (Clifton, N.J.). 1867: 215-228. PMID 30155826 DOI: 10.1007/978-1-4939-8799-3_16 |
0.88 |
|
| 2018 |
Gammage PA, Minczuk M. Enhanced Manipulation of Human Mitochondrial DNA Heteroplasmy In Vitro Using Tunable mtZFN Technology. Methods in Molecular Biology (Clifton, N.J.). 1867: 43-56. PMID 30155814 DOI: 10.1007/978-1-4939-8799-3_4 |
0.877 |
|
| 2018 |
D'Souza AR, Minczuk M. Mitochondrial transcription and translation: overview. Essays in Biochemistry. 62: 309-320. PMID 30030363 DOI: 10.1042/Ebc20170102 |
0.655 |
|
| 2018 |
Peeva V, Blei D, Trombly G, Corsi S, Szukszto MJ, Rebelo-Guiomar P, Gammage PA, Kudin AP, Becker C, Altmüller J, Minczuk M, Zsurka G, Kunz WS. Linear mitochondrial DNA is rapidly degraded by components of the replication machinery. Nature Communications. 9: 1727. PMID 29712893 DOI: 10.1038/S41467-018-04131-W |
0.876 |
|
| 2018 |
Gaude E, Schmidt C, Gammage PA, Dugourd A, Blacker T, Chew SP, Saez-Rodriguez J, O'Neill JS, Szabadkai G, Minczuk M, Frezza C. NADH Shuttling Couples Cytosolic Reductive Carboxylation of Glutamine with Glycolysis in Cells with Mitochondrial Dysfunction. Molecular Cell. 69: 581-593.e7. PMID 29452638 DOI: 10.1016/J.Molcel.2018.01.034 |
0.886 |
|
| 2018 |
Kruppa AJ, Kishi-Itakura C, Masters TA, Rorbach JE, Grice GL, Kendrick-Jones J, Nathan JA, Minczuk M, Buss F. Myosin VI-Dependent Actin Cages Encapsulate Parkin-Positive Damaged Mitochondria. Developmental Cell. PMID 29398621 DOI: 10.1016/J.Devcel.2018.01.007 |
0.806 |
|
| 2017 |
Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K, Chinnery PF. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain : a Journal of Neurology. PMID 29182774 DOI: 10.1093/Brain/Awx295 |
0.814 |
|
| 2017 |
Gammage PA, Moraes CT, Minczuk M. Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized. Trends in Genetics : Tig. PMID 29179920 DOI: 10.1016/J.Tig.2017.11.001 |
0.883 |
|
| 2017 |
Vantroys E, Larson A, Friederich M, Knight K, Swanson MA, Powell CA, Smet J, Vergult S, De Paepe B, Seneca S, Roeyers H, Menten B, Minczuk M, Vanlander A, Van Hove J, et al. New insights into the phenotype of FARS2 deficiency. Molecular Genetics and Metabolism. PMID 29126765 DOI: 10.1016/J.Ymgme.2017.10.004 |
0.457 |
|
| 2017 |
Patel D, Rorbach J, Downes K, Szukszto MJ, Pekalski ML, Minczuk M. Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells. Scientific Reports. 7: 12886. PMID 29018288 DOI: 10.1038/S41598-017-13227-0 |
0.775 |
|
| 2017 |
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, et al. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Human Molecular Genetics. PMID 28973171 DOI: 10.17863/Cam.13649 |
0.817 |
|
| 2017 |
Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, ... ... Minczuk M, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics. PMID 28942965 DOI: 10.1016/J.Ajhg.2017.08.015 |
0.711 |
|
| 2017 |
Chrzanowska-Lightowlers Z, Rorbach J, Minczuk M. Human mitochondrial ribosomes can switch structural tRNAs - but when and why? Rna Biology. 14: 1668-1671. PMID 28786741 DOI: 10.1080/15476286.2017.1356551 |
0.825 |
|
| 2017 |
Pearce SF, Rorbach J, Van Haute L, D'Souza AR, Rebelo-Guiomar P, Powell CA, Brierley I, Firth AE, Minczuk M. Maturation of selected human mitochondrial tRNAs requires deadenylation. Elife. 6. PMID 28745585 DOI: 10.7554/Elife.27596 |
0.832 |
|
| 2017 |
Pearce SF, Rebelo-Guiomar P, D'Souza AR, Powell CA, Haute LV, Minczuk M. Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances. Trends in Biochemical Sciences. PMID 28285835 DOI: 10.1016/J.Tibs.2017.02.003 |
0.703 |
|
| 2017 |
Van Haute L, Powell CA, Minczuk M. Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNA(Met). Biomolecules. 7. PMID 28257121 DOI: 10.3390/biom7010024 |
0.644 |
|
| 2017 |
Zaganelli S, Rebelo-Guiomar P, Maundrell K, Rozanska A, Pierredon S, Powell CA, Jourdain AA, Hulo N, Lightowlers RN, Chrzanowska-Lightowlers ZM, Minczuk M, Martinou JC. The Pseudouridine Synthase RPUSD4 is an essential component of Mitochondrial RNA Granules. The Journal of Biological Chemistry. PMID 28082677 DOI: 10.1074/Jbc.M116.771105 |
0.677 |
|
| 2017 |
Pearce SF, Rorbach J, Haute LV, D’Souza AR, Rebelo-Guiomar P, Powell CA, Brierley I, Firth AE, Minczuk M. Author response: Maturation of selected human mitochondrial tRNAs requires deadenylation Elife. DOI: 10.7554/Elife.27596.025 |
0.806 |
|
| 2016 |
Rorbach J, Gao F, Powell CA, D'Souza A, Lightowlers RN, Minczuk M, Chrzanowska-Lightowlers ZM. Human mitochondrial ribosomes can switch their structural RNA composition. Proceedings of the National Academy of Sciences of the United States of America. PMID 27729525 DOI: 10.1073/Pnas.1609338113 |
0.796 |
|
| 2016 |
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. Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. Nucleic Acids Research. PMID 27466392 DOI: 10.1093/Nar/Gkw676 |
0.865 |
|
| 2016 |
Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases. 11: 90. PMID 27370603 DOI: 10.1186/S13023-016-0477-0 |
0.495 |
|
| 2016 |
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, ... ... Minczuk M, et al. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nature Communications. 7: 12039. PMID 27356879 DOI: 10.1038/Ncomms12039 |
0.795 |
|
| 2016 |
Karniely S, Weekes MP, Antrobus R, Rorbach J, van Haute L, Umrania Y, Smith DL, Stanton RJ, Minczuk M, Lehner PJ, Sinclair JH. Human Cytomegalovirus Infection Upregulates the Mitochondrial Transcription and Translation Machineries. Mbio. 7. PMID 27025248 DOI: 10.1128/Mbio.00029-16 |
0.837 |
|
| 2016 |
Gammage PA, Van Haute L, Minczuk M. Engineered mtZFNs for Manipulation of Human Mitochondrial DNA Heteroplasmy. Methods in Molecular Biology (Clifton, N.J.). 1351: 145-62. PMID 26530680 DOI: 10.1007/978-1-4939-3040-1_11 |
0.862 |
|
| 2016 |
Rorbach J, Gammage PA, Minczuk M. C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Research. 44: 992. PMID 26487634 DOI: 10.1093/Nar/Gkv1125 |
0.883 |
|
| 2016 |
Baxter M, Guiomar P, Minczuk M, Chinnery P, Loudon A, Ray D. Merm1: a novel regulator of mitochondrial transcription and function Journal of World Mitochondria Society. 2. DOI: 10.18143/Jwms_V2I2_1965 |
0.72 |
|
| 2015 |
Powell 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, ... ... Minczuk M, et al. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. American Journal of Human Genetics. 97: 319-28. PMID 26189817 DOI: 10.1016/J.Ajhg.2015.06.011 |
0.85 |
|
| 2015 |
Van Haute L, Pearce SF, Powell CA, D'Souza AR, Nicholls TJ, Minczuk M. Mitochondrial transcript maturation and its disorders. Journal of Inherited Metabolic Disease. PMID 26016801 DOI: 10.1007/S10545-015-9859-Z |
0.859 |
|
| 2015 |
Powell CA, Nicholls TJ, Minczuk M. Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease. Frontiers in Genetics. 6: 79. PMID 25806043 DOI: 10.3389/Fgene.2015.00079 |
0.865 |
|
| 2015 |
Coughlin CR, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. Journal of Medical Genetics. 52: 532-40. PMID 25787132 DOI: 10.1136/Jmedgenet-2015-103049 |
0.662 |
|
| 2015 |
Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Human Mutation. 36: 222-31. PMID 25385316 DOI: 10.1002/Humu.22728 |
0.484 |
|
| 2014 |
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, ... ... Minczuk M, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. American Journal of Human Genetics. 95: 708-20. PMID 25434004 DOI: 10.1016/J.Ajhg.2014.10.017 |
0.89 |
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| 2014 |
Vanlander A, Minczuk M, Sante T, Smet J, Paepe BD, Meirleir LD, Menten B, Coster RV. Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2 Journal of Inherited Metabolic Disease. 37. PMID 25085675 DOI: 10.1007/S10545-014-9740-5 |
0.555 |
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| 2014 |
Rorbach J, Boesch P, Gammage PA, Nicholls TJ, Pearce SF, Patel D, Hauser A, Perocchi F, Minczuk M. MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome. Molecular Biology of the Cell. 25: 2542-55. PMID 25009282 DOI: 10.1091/Mbc.E14-01-0014 |
0.871 |
|
| 2014 |
Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M. Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Human Molecular Genetics. 23: 6147-62. PMID 24986917 DOI: 10.1093/Hmg/Ddu336 |
0.862 |
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| 2014 |
Dalla Rosa I, Durigon R, Pearce SF, Rorbach J, Hirst EM, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ, Spinazzola A. MPV17L2 is required for ribosome assembly in mitochondria. Nucleic Acids Research. 42: 8500-15. PMID 24948607 DOI: 10.1093/Nar/Gku513 |
0.86 |
|
| 2014 |
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, et al. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Human Mutation. 35: 983-9. PMID 24827421 DOI: 10.1002/Humu.22590 |
0.637 |
|
| 2014 |
Johnson MA, Vidoni S, Durigon R, Pearce SF, Rorbach J, He J, Brea-Calvo G, Minczuk M, Reyes A, Holt IJ, Spinazzola A. Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis. Plos One. 9: e93597. PMID 24718614 DOI: 10.1371/Journal.Pone.0093597 |
0.733 |
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| 2014 |
Nicholls TJ, Minczuk M. In D-loop: 40 years of mitochondrial 7S DNA. Experimental Gerontology. 56: 175-81. PMID 24709344 DOI: 10.1016/J.Exger.2014.03.027 |
0.807 |
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| 2014 |
Rorbach J, Bobrowicz A, Pearce S, Minczuk M. Polyadenylation in bacteria and organelles. Methods in Molecular Biology (Clifton, N.J.). 1125: 211-27. PMID 24590792 DOI: 10.1007/978-1-62703-971-0_18 |
0.666 |
|
| 2014 |
Gammage PA, Rorbach J, Vincent AI, Rebar EJ, Minczuk M. Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations. Embo Molecular Medicine. 6: 458-66. PMID 24567072 DOI: 10.1002/Emmm.201303672 |
0.878 |
|
| 2013 |
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, ... ... Minczuk M, et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. American Journal of Human Genetics. 93: 211-23. PMID 23849775 DOI: 10.1016/J.Ajhg.2013.06.006 |
0.889 |
|
| 2013 |
Nicholls TJ, Rorbach J, Minczuk M. Mitochondria: mitochondrial RNA metabolism and human disease. The International Journal of Biochemistry & Cell Biology. 45: 845-9. PMID 23333854 DOI: 10.1016/J.Biocel.2013.01.005 |
0.878 |
|
| 2013 |
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, ... ... Minczuk M, et al. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease Nature Genetics. 45: 214-219. PMID 23313956 DOI: 10.1038/Ng.2501 |
0.895 |
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| 2013 |
Kazak L, Reyes A, Duncan AL, Rorbach J, Wood SR, Brea-Calvo G, Gammage PA, Robinson AJ, Minczuk M, Holt IJ. Alternative translation initiation augments the human mitochondrial proteome. Nucleic Acids Research. 41: 2354-69. PMID 23275553 DOI: 10.1093/Nar/Gks1347 |
0.88 |
|
| 2013 |
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, ... ... Minczuk M, et al. O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder Neuromuscular Disorders. 23: 852-852. DOI: 10.1016/J.Nmd.2013.06.734 |
0.888 |
|
| 2012 |
Rorbach J, Minczuk M. The post-transcriptional life of mammalian mitochondrial RNA. The Biochemical Journal. 444: 357-73. PMID 22642575 DOI: 10.1042/Bj20112208 |
0.775 |
|
| 2012 |
Rorbach J, Gammage PA, Minczuk M. C7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosome. Nucleic Acids Research. 40: 4097-109. PMID 22238376 DOI: 10.1093/nar/gkr1282 |
0.885 |
|
| 2011 |
Rorbach J, Nicholls TJ, Minczuk M. PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria. Nucleic Acids Research. 39: 7750-63. PMID 21666256 DOI: 10.1093/Nar/Gkr470 |
0.868 |
|
| 2011 |
Minczuk M, He J, Duch AM, Ettema TJ, Chlebowski A, Dzionek K, Nijtmans LG, Huynen MA, Holt IJ. TEFM (c17orf42) is necessary for transcription of human mtDNA. Nucleic Acids Research. 39: 4284-99. PMID 21278163 DOI: 10.1093/Nar/Gkq1224 |
0.652 |
|
| 2010 |
Suzuki Y, Holmes JB, Cerritelli SM, Sakhuja K, Minczuk M, Holt IJ, Crouch RJ. An upstream open reading frame and the context of the two AUG codons affect the abundance of mitochondrial and nuclear RNase H1. Molecular and Cellular Biology. 30: 5123-34. PMID 20823270 DOI: 10.1128/Mcb.00619-10 |
0.56 |
|
| 2010 |
Minczuk M. Engineered zinc finger proteins for manipulation of the human mitochondrial genome. Methods in Molecular Biology (Clifton, N.J.). 649: 257-70. PMID 20680840 DOI: 10.1007/978-1-60761-753-2_16 |
0.642 |
|
| 2010 |
Minczuk M, Kolasinska-Zwierz P, Murphy MP, Papworth MA. Construction and testing of engineered zinc-finger proteins for sequence-specific modification of mtDNA. Nature Protocols. 5: 342-56. PMID 20134433 DOI: 10.1038/Nprot.2009.245 |
0.542 |
|
| 2010 |
Rorbach J, Nicholls T, Minczuk M. Polyadenylation of mt mRNA: Identification of novel deadenylase of human mitochondria Biochimica Et Biophysica Acta. 1797: 105. DOI: 10.1016/J.Bbabio.2010.04.317 |
0.821 |
|
| 2008 |
Minczuk M, Papworth MA, Miller JC, Murphy MP, Klug A. Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA. Nucleic Acids Research. 36: 3926-38. PMID 18511461 DOI: 10.1093/Nar/Gkn313 |
0.736 |
|
| 2006 |
Minczuk M, Papworth MA, Kolasinska P, Murphy MP, Klug A. Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase. Proceedings of the National Academy of Sciences of the United States of America. 103: 19689-94. PMID 17170133 DOI: 10.1073/Pnas.0609502103 |
0.738 |
|
| 2005 |
Minczuk M, Mroczek S, Pawlak SD, Stepien PP. Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP. The Febs Journal. 272: 5008-19. PMID 16176273 DOI: 10.1111/J.1742-4658.2005.04910.X |
0.505 |
|
| 2005 |
Minczuk M, Lilpop J, Boros J, Stepien PP. The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing. Biochimica Et Biophysica Acta. 1729: 81-7. PMID 15919122 DOI: 10.1016/J.Bbaexp.2005.04.005 |
0.551 |
|
| 2004 |
Piwowarski J, Dziembowski A, Dmochowska A, Minczuk M, Tomecki R, Gewartowski K, Stepien PP. RNA degradation in yeast and human mitochondria. Toxicology Mechanisms and Methods. 14: 53-7. PMID 20021123 DOI: 10.1080/15376520490257473 |
0.454 |
|
| 2003 |
Piwowarski J, Grzechnik P, Dziembowski A, Dmochowska A, Minczuk M, Stepien PP. Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria. Journal of Molecular Biology. 329: 853-7. PMID 12798676 DOI: 10.1016/S0022-2836(03)00528-X |
0.607 |
|
| 2003 |
Papworth M, Moore M, Isalan M, Minczuk M, Choo Y, Klug A. Inhibition of herpes simplex virus 1 gene expression by designer zinc-finger transcription factors. Proceedings of the National Academy of Sciences of the United States of America. 100: 1621-6. PMID 12574501 DOI: 10.1073/Pnas.252773399 |
0.487 |
|
| 2003 |
Dziembowski A, Piwowarski J, Hoser R, Minczuk M, Dmochowska A, Siep M, van der Spek H, Grivell L, Stepien PP. The yeast mitochondrial degradosome. Its composition, interplay between RNA helicase and RNase activities and the role in mitochondrial RNA metabolism. The Journal of Biological Chemistry. 278: 1603-11. PMID 12426313 DOI: 10.1074/Jbc.M208287200 |
0.619 |
|
| 2002 |
Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP, Borowski P. Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA. Nucleic Acids Research. 30: 5074-86. PMID 12466530 DOI: 10.1093/Nar/Gkf647 |
0.6 |
|
| 2002 |
Minczuk M, Dmochowska A, Palczewska M, Stepien PP. Overexpressed yeast mitochondrial putative RNA helicase Mss116 partially restores proper mtRNA metabolism in strains lacking the Suv3 mtRNA helicase. Yeast (Chichester, England). 19: 1285-93. PMID 12402239 DOI: 10.1002/Yea.906 |
0.543 |
|
| 1998 |
Dziembowski A, Malewicz M, Minczuk M, Golik P, Dmochowska A, Stepien PP. The yeast nuclear gene DSS1, which codes for a putative RNase II, is necessary for the function of the mitochondrial degradosome in processing and turnover of RNA Molecular Genetics and Genomics. 260: 108-114. PMID 9829834 DOI: 10.1007/S004380050876 |
0.655 |
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