The catalytic activity of methyltransferase METTL15 is dispensable for its role in mitochondrial ribosome biogenesis

Authors: Christian D. Mutti, Lindsey Van Haute, Michal Minczuk

Source: RNA Biology, Vol 21, Iss 1, Pp 687-694 (2024)

Subject Terms: Mitochondrial ribosome, epitranscriptomics, methyltransferase, chaperone, mitochondria, ribosomal RNA, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1547-6286; https://doaj.org/toc/1555-8584

Access URL: https://doaj.org/article/f7670361fb544c68b1ceff6ea35da524

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

Authors: Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

Source: EMBO Molecular Medicine, Vol 17, Iss 1, Pp 193-210 (2024)

Subject Terms: Exome Sequencing, Lactic Acidosis, Mitochondrial Disease, RNA Processing, tRNA, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/b5fa508dc9ca49af856798aa0160019c

GTPBP8 plays a role in mitoribosome formation in human mitochondria

Authors: 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

Source: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/7e993f34f7d84d7d9dd49ff3b7ab5aba

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

Authors: Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen

Source: JIMD Reports, Vol 64, Iss 3, Pp 223-232 (2023)

Subject Terms: CARS2, mitochondrial disorders, neurodevelopmental disorder, tRNA synthetases, whole‐exome sequencing, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/4f5342b87e7f4e589989796569d7e800

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Authors: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

Source: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce

Protocol to study human mitochondrial ribosome using quantitative density gradient analysis by mass spectrometry and complexome profiling analysis

Authors: Petra Páleníková, Michal Minczuk, Pedro Rebelo-Guiomar

Source: STAR Protocols, Vol 4, Iss 4, Pp 102605- (2023)

Subject Terms: Bioinformatics, Proteomics, Protein Expression and Purification, Science (General), Q1-390

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666166723005725; https://doaj.org/toc/2666-1667

Access URL: https://doaj.org/article/f5debe849ae149ca99ef702e498a5d93

Compact zinc finger base editors that edit mitochondrial or nuclear DNA in vitro and in vivo

Authors: Julian C. W. Willis, Pedro Silva-Pinheiro, Lily Widdup, Michal Minczuk, David R. Liu

Source: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/c62b893f4c8e49f3a91771f9cbfda529

A late-stage assembly checkpoint of the human mitochondrial ribosome large subunit

Authors: Pedro Rebelo-Guiomar, Simone Pellegrino, Kyle C. Dent, Aldema Sas-Chen, Leonor Miller-Fleming, Caterina Garone, Lindsey Van Haute, Jack F. Rogan, Adam Dinan, Andrew E. Firth, Byron Andrews, Alexander J. Whitworth, Schraga Schwartz, Alan J. Warren, Michal Minczuk

Source: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/b26a6648dba14e5181a35583967acaa7

In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue

Authors: Pedro Silva-Pinheiro, Pavel A. Nash, Lindsey Van Haute, Christian D. Mutti, Keira Turner, Michal Minczuk

Source: Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/6575427a5bcd453285e13ddba4173df3

Disruption of the TCA cycle reveals an ATF4-dependent integration of redox and amino acid metabolism

Authors: Dylan Gerard Ryan, Ming Yang, Hiran A Prag, Giovanny Rodriguez Blanco, Efterpi Nikitopoulou, Marc Segarra-Mondejar, Christopher A Powell, Tim Young, Nils Burger, Jan Lj Miljkovic, Michal Minczuk, Michael P Murphy, Alex von Kriegsheim, Christian Frezza

Source: eLife, Vol 10 (2021)

Subject Terms: TCA cycle, mitochondria, metabolism, metabolomics, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/72593; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/80d136ec78d5410db97d860963ac3ad5

The FASTK family proteins fine-tune mitochondrial RNA processing.

Authors: Akira Ohkubo, Lindsey Van Haute, Danielle L Rudler, Maike Stentenbach, Florian A Steiner, Oliver Rackham, Michal Minczuk, Aleksandra Filipovska, Jean-Claude Martinou

Source: PLoS Genetics, Vol 17, Iss 11, p e1009873 (2021)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/4c5c70293ada4f08931022703464602a

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

Authors: Simonetta Andreazza, Colby L. Samstag, Alvaro Sanchez-Martinez, Erika Fernandez-Vizarra, Aurora Gomez-Duran, Juliette J. Lee, Roberta Tufi, Michael J. Hipp, Elizabeth K. Schmidt, Thomas J. Nicholls, Payam A. Gammage, Patrick F. Chinnery, Michal Minczuk, Leo J. Pallanck, Scott R. Kennedy, Alexander J. Whitworth

Source: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/f090eaf1785247208a099d9f6a996bb3

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

Authors: Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel Mutti, Alessandra Torraco, Romina Oliva, Erika Fernandez-Vizarra, Federica Morani, Giulia Trani, Teresa Rizza, Daniele Ghezzi, Anna Ardissone, Claudia Nesti, Gessica Vasco, Massimo Zeviani, Michal Minczuk, Enrico Bertini, Filippo Maria Santorelli, Rosalba Carrozzo

Source: Neurobiology of Disease, Vol 141, Iss , Pp 104880- (2020)

Subject Terms: Mitochondrial disorders, Movement disorder, MRPL24, Mitoribosomes, Mitochondrial protein synthesis, Zebrafish, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996120301558; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/fd38a99915094d3995c8278007993be3

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Authors: Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove

Source: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/5e2c03b6081043e5add48aba3812d059

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery

Authors: Viktoriya Peeva, Daniel Blei, Genevieve Trombly, Sarah Corsi, Maciej J. Szukszto, Pedro Rebelo-Guiomar, Payam A. Gammage, Alexei P. Kudin, Christian Becker, Janine Altmüller, Michal Minczuk, Gábor Zsurka, Wolfram S. Kunz

Source: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/979579d067db4608bae2ab8f5bf93bd8

Cardiac mitochondrial function depends on BUD23 mediated ribosome programming

Authors: Matthew Baxter, Maria Voronkov, Toryn Poolman, Gina Galli, Christian Pinali, Laurence Goosey, Abigail Knight, Karolina Krakowiak, Robert Maidstone, Mudassar Iqbal, Min Zi, Sukhpal Prehar, Elizabeth J Cartwright, Julie Gibbs, Laura C Matthews, Antony D Adamson, Neil E Humphreys, Pedro Rebelo-Guiomar, Michal Minczuk, David A Bechtold, Andrew Loudon, David Ray

Source: eLife, Vol 9 (2020)

Subject Terms: mitochondria, protein translation, cardiac, ribosome, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/50705; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/c80495bec8114315bceead7ae22ca77e

Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations.

Authors: Hanne Hoitzing, Payam A Gammage, Lindsey Van Haute, Michal Minczuk, Iain G Johnston, Nick S Jones

Source: PLoS Computational Biology, Vol 15, Iss 6, p e1007023 (2019)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1553-734X; https://doaj.org/toc/1553-7358

Access URL: https://doaj.org/article/28494271e68e473383d5e00dc5b1fce6

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Authors: Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F. Pearce, Christopher A. Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer, Urania Kotzaeridou, Georg F. Hoffmann, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Johannes A. Mayr, Michaela Frye, Holger Prokisch, Michal Minczuk

Source: Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/95601b7fb2264bc4b7cdfae73ac97c8e

Maturation of selected human mitochondrial tRNAs requires deadenylation

Authors: Sarah F Pearce, Joanna Rorbach, Lindsey Van Haute, Aaron R D’Souza, Pedro Rebelo-Guiomar, Christopher A Powell, Ian Brierley, Andrew E Firth, Michal Minczuk

Source: eLife, Vol 6 (2017)

Subject Terms: mitochondria, mitochondrial RNA, mitoribosome, polyadenylation, mtPAP, ribosome profiling, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/27596; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/33fe4df6fee0477eae319afd1470c825

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

Authors: Payam A Gammage, Joanna Rorbach, Anna I Vincent, Edward J Rebar, Michal Minczuk

Source: EMBO Molecular Medicine, Vol 6, Iss 4, Pp 458-466 (2014)

Subject Terms: gene therapy, heteroplasmy, mitochondrial disease, zinc finger nuclease, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/1f20643c6a5a43d8b1fa075b77589992