المؤلفون: 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

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

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

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

المؤلفون: 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

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

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

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

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

المساهمون: Kurolap, Alina [0000-0002-7005-3621], Sainz, Bruno [0000-0003-4829-7651], Smeitink, Jan A [0000-0003-1392-8038], Szukszto, Maciej J [0000-0002-0463-652X], Rodenburg, Richard J [0000-0001-5227-3527], Apollo - University of Cambridge Repository, 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), UAM. Departamento de Bioquímica

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

مصطلحات موضوعية: DARS2, 0301 basic medicine, Male, Models, Molecular, Mitochondrial Diseases, Glutamine, Nitrogenous Group Transferases, General Physics and Astronomy, TRANSFER-RNA SYNTHETASE, Mitochondrial protein synthesis, Oxidative Phosphorylation, SACCHAROMYCES-CEREVISIAE, mt-tRNAs, 0302 clinical medicine, RNA, Transfer, Protein biosynthesis, lcsh:Science, LACTIC-ACIDOSIS, Peptide sequence, IN-VIVO, Multidisciplinary, Bio-Molecular Chemistry, GENETIC-VARIATION, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Translation (biology), ENCEPHALOPATHY, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], HUMAN-DISEASE, 3. Good health, Pedigree, Biochemistry, Female, Cardiomyopathies, KNOWLEDGEBASE, Medicina, Science, Protein subunit, Saccharomyces cerevisiae, Aminoacylation, Biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Humans, Amino Acid Sequence, Glutamine amidotransferase, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Myocardium, Lentivirus, Infant, Newborn, Infant, General Chemistry, Fibroblasts, biology.organism_classification, Protein Subunits, 030104 developmental biology, Protein Biosynthesis, Mutation, lcsh:Q, TRANSLATION, 030217 neurology & neurosurgery, GatCAB

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96e045c0b287003de5f67c13f22fb98
https://www.repository.cam.ac.uk/handle/1810/286571

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

المساهمون: Minczuk, Michal [0000-0001-8242-1420], Zsurka, Gábor [0000-0002-6379-849X], Kunz, Wolfram S [0000-0003-1113-3493], Apollo - University of Cambridge Repository

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

مصطلحات موضوعية: 0301 basic medicine, DNA Replication, Mitochondrial DNA, Science, Recombinant Fusion Proteins, General Physics and Astronomy, ENDOG, Biology, Mitochondrion, medicine.disease_cause, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Electron Transport Complex IV, 03 medical and health sciences, chemistry.chemical_compound, medicine, Humans, DNA Breaks, Double-Stranded, DNA Cleavage, lcsh:Science, Deoxyribonucleases, Type II Site-Specific, Polymerase, Gene Editing, Mutation, Multidisciplinary, Base Sequence, DNA replication, DNA Helicases, Helicase, General Chemistry, Genetic Therapy, Cell biology, DNA Polymerase gamma, Mitochondria, 030104 developmental biology, Exodeoxyribonucleases, HEK293 Cells, chemistry, biology.protein, lcsh:Q, CRISPR-Cas Systems, DNA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89b61a2e33bf3ec31de2b5a72c814af
http://europepmc.org/articles/PMC5928156

المؤلفون: Joanna Rorbach, Marcin L. Pekalski, Michal Minczuk, Dipali Patel, Kate Downes, Maciej J. Szukszto

المصدر: Sci Rep
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Endocytic cycle, lcsh:Medicine, Oxidative phosphorylation, Mitochondrion, Biology, Endocytosis, DNA, Mitochondrial, Article, Oxidative Phosphorylation, 03 medical and health sciences, 0302 clinical medicine, Epidermal growth factor, Cell Line, Tumor, Humans, lcsh:Science, Transport Vesicles, Osteosarcoma, Multidisciplinary, Base Sequence, Epidermal Growth Factor, Pinocytosis, lcsh:R, HEK 293 cells, Mitochondria, Cell biology, HEK293 Cells, 030104 developmental biology, lcsh:Q, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4e9221f5b05f9f6b19595c059b5b1b
https://doi.org/10.1038/s41598-017-13227-0