Search Results - "Rebelo-Guiomar P"

Contributors: Garone C., D'Souza A.R., Dallabona C., Lodi T., Rebelo-Guiomar P., Rorbach J., Donati M.A., Procopio E., Montomoli M., Guerrini R., Zeviani M., Calvo S.E., Mootha V.K., DiMauro S., Ferrero I., Minczuk M.

Source: Human Molecular Genetics
Hum Mol Genet

File Description: ELETTRONICO

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f19ffe266a1404505396754e1f128d05
http://europepmc.org/articles/PMC5886288

6

The mammalian mitochondrial epitranscriptome☆

Authors: Michal Minczuk, Lindsey Van Haute, Pedro Rebelo-Guiomar, Christopher A. Powell

Source: Biochimica et Biophysica Acta. Gene Regulatory Mechanisms

File Description: Print-Electronic

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e37d0eed5aefa221e5a4e13da675b2
http://europepmc.org/articles/PMC6414753

7

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

Authors: Michal Minczuk, Ian M. Fearnley, Petra Páleníková, Michael E. Harbour, Joanna Rorbach, Pedro Rebelo-Guiomar, Rick Scavetta, Shujing Ding, Lindsey Van Haute

Source: Methods Mol Biol
Biochimica et Biophysica Acta. Bioenergetics

Subject Terms: Cell Biology, Biochemistry, Biophysics, Ribosome, Mitochondrial ribosome, Quantitative analysis (chemistry), Native state, Computational biology, Density gradient ultracentrifugation, Chemistry, Stable isotope labeling by amino acids in cell culture, Mass spectrometry, Proteomics, Article, Complexome profiling, SILAC, R package

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083bd822a95a06f5edea49569cfbcd43
https://doi.org/10.1016/j.bbabio.2021.148399

8

The role of RNA modifications in mitochondrial translation

Authors: Rebelo Guiomar, Pedro

Subject Terms: Mitochondria, RNA, Epitranscriptome, Translation, Ribosome, Methylation, Pseudouridine

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f27db346ee99d414e7eec33dcd916a3
https://www.repository.cam.ac.uk/handle/1810/308942

9

Cardiac mitochondrial function depends on BUD23 mediated ribosome programming

Source: essn: 2050-084X
nlmid: 101579614
eLife, Vol 9 (2020)
eLife
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, E J, Gibbs, J, Matthews, L C, Adamson, A D, Humphreys, N E, Rebelo-guiomar, P, Minczuk, M, Bechtold, D A, Loudon, A & Ray, D 2020, ' Cardiac mitochondrial function depends on BUD23 mediated ribosome programming ', eLife, vol. 9, e50705 . https://doi.org/10.7554/eLife.50705

Subject Terms: Mitochondria, Ribosomes, Myocytes, Cardiac, Animals, Humans, Mice, Cardiomyopathies, Methyltransferases, Mitochondrial Proteins, 5' Untranslated Regions, Base Composition, Female, Male, Embryo, Mammalian, Protein Interaction Maps, A549 Cells, Human, Cell biology, Mouse, Cardiac, Ribosome, Protein translation, mitochondria, protein translation, cardiac, ribosome, Medicine, Science, Biology (General), QH301-705.5, Research Article, Cell Biology, General Immunology and Microbiology, General Biochemistry, Genetics and Molecular Biology, General Medicine, General Neuroscience, Mitochondrion, Translation (biology), Gene expression, Biology, Messenger RNA, A549 cell, Bioenergetics, Function (biology)

File Description: Electronic; application/pdf

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa5e04871b65527d44e733e9e401302
https://www.repository.cam.ac.uk/handle/1810/303504

10

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

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

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

Subject Terms: Science, General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary, ENDOG, Mitochondrion, Mitochondrial DNA, DNA replication, Mutation, medicine.disease_cause, medicine, Polymerase, biology.protein, biology, Cell biology, DNA, chemistry.chemical_compound, chemistry, Helicase, Mitochondria, Humans, Electron Transport Complex IV, Deoxyribonucleases, Type II Site-Specific, Exodeoxyribonucleases, DNA Helicases, Recombinant Fusion Proteins, DNA, Mitochondrial, DNA Replication, Base Sequence, DNA Breaks, Double-Stranded, DNA Cleavage, HEK293 Cells, Genetic Therapy, CRISPR-Cas Systems, Gene Editing, DNA Polymerase gamma, lcsh:Science, lcsh:Q, Article

File Description: application/pdf; Electronic

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89b61a2e33bf3ec31de2b5a72c814af
https://doaj.org/article/979579d067db4608bae2ab8f5bf93bd8

PDF Full Text

11

Author response: Cardiac mitochondrial function depends on BUD23 mediated ribosome programming

Subject Terms: Ribosome, Function (biology), Cell biology, Chemistry

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::7a4e4af879d04313e964421688aef2cb
https://doi.org/10.7554/elife.50705.sa2

12

METTL15 introduces N4-methylcytidine into human mitochondrial 12S rRNA and is required for mitoribosome biogenesis

Authors: Michal Minczuk, Aaron R. D’Souza, Shujing Ding, Ian M. Fearnley, Christopher A. Powell, Lindsey Van Haute, Pedro Rebelo-Guiomar, Michael E. Harbour, Byron Andrews, Alan G. Hendrick

Source: Nucleic Acids Research

Subject Terms: Genetics, RNA, Protein biosynthesis, Ribosome, Mitochondrion, Translation (biology), Biology, Biogenesis, Mitochondrial ribosome, Cell biology, Ribosomal RNA, Nucleic Acid Enzymes

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a61220b77c7f607cc3873159b6f179c

13

Academic Journal

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

Authors: D'Souza, Aaron R, Van Haute, Lindsey, Powell, Christopher A, Mutti, Christian D, Páleníková, Petra, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Minczuk, Michal

Source: Nucleic Acids Research; 6/4/2021, Vol. 49 Issue 10, p5798-5812, 15p

Accede al texto completo

HTML Full Text PDF Full Text

14

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

Source: American Journal of Human Genetics, 103, 1045-1052
The American Journal of Human Genetics

Subject Terms: Report, Genetics (clinical), Genetics, Transfer RNA, Intellectual disability, medicine.disease, medicine, Speech delay, medicine.symptom, Microcephaly, RNA, Short stature, Exon, Biology, Poison control

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffde4fc4129ca32880c4e40085b728c
https://europepmc.org/articles/PMC6288278/

15

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

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

Contributors: UAM. Departamento de Bioquímica, Center for Liver, Digestive and Metabolic Diseases (CLDM), Medical Research Council (UK), University of Colorado, Fondazione Telethon, Instituto de Salud Carlos III, Federación Española de Enfermedades Raras, Fundação para a Ciência e a Tecnologia (Portugal)

Source: Nature Communications, 9(1):4065. Nature Publishing Group
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Nature Communications, 9
Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Digital.CSIC. Repositorio Institucional del CSIC

Subject Terms: Myocardium, Fibroblasts, Humans, Lentivirus, Saccharomyces cerevisiae, Cardiomyopathies, Mitochondrial Diseases, Nitrogenous Group Transferases, Protein Subunits, RNA, Transfer, Pedigree, Protein Biosynthesis, Amino Acid Sequence, Oxidative Phosphorylation, Mutation, Models, Molecular, Infant, Infant, Newborn, Female, Male, Mitochondrial protein synthesis, mt-tRNAs, GatCAB, Glutamine, DARS2, Medicina, TRANSFER-RNA SYNTHETASE, SACCHAROMYCES-CEREVISIAE, GENETIC-VARIATION, LACTIC-ACIDOSIS, HUMAN-DISEASE, IN-VIVO, MUTATIONS, TRANSLATION, ENCEPHALOPATHY, KNOWLEDGEBASE, Article, Science, General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Protein subunit, Protein biosynthesis, Glutamine amidotransferase, Biochemistry, Peptide sequence, Translation (biology), biology.organism_classification, biology, Aminoacylation, lcsh:Science, lcsh:Q