المؤلفون: D'Souza, AR, Van Haute, L, Powell, CA, Mutti, CD, Palenikova, P, Rebelo-Guiomar, P, Rorbach, J, Minczuk, M

المصدر: Nucleic acids research. 49(10):5798-5812

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:147070454

المؤلفون: Chrzanowska-Lightowlers, Z, Rorbach, J, Minczuk, M

المصدر: RNA biology. 14(12):1668-1671

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137545306

المؤلفون: 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

المصدر: Human molecular genetics. 26(21):4257-4266

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136881560

المؤلفون: Rorbach, J, Gao, F, Powell, CA, D'Souza, A, Lightowlers, RN, Minczuk, M, Chrzanowska-Lightowlers, ZM

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 113(43):12198-12201

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134473367

المؤلفون: Van Haute L, Palenikova P, Tang JX, Nash PA, Simon MT, Pyle A, Olahova M, Powell CA, Rebelo-Guiomar P, Stover A, Champion M, Deshpande C, Baple EL, Stals KL, Ellard S, Anselem O, Molac C, Petrilli G, Loeuillet L, Grotto S, Attie-Bitach T, Abdenur JE, Taylor RW, Minczuk M

المصدر: EMBO Molecular Medicine, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/302757; https://eprints.ncl.ac.uk/fulltext.aspx?url=302757/75CC4A37-2848-4B84-9207-BAD31BDC4443.pdf&pub_id=302757

الاتاحة: https://eprints.ncl.ac.uk/302757

المؤلفون: Keshavan, N, Minczuk, M, Viscomi, C, Rahman, S

المصدر: Journal of Inherited Metabolic Disease , 47 (1) pp. 145-175. (2024)

مصطلحات موضوعية: AAV, CRISPR, LHON, gene editing, gene therapy, mitochondrial disease

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10185582/1/Gene%20therapy%20for%20mitochondrial%20disorders.pdf; https://discovery.ucl.ac.uk/id/eprint/10185582/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10185582/1/Gene%20therapy%20for%20mitochondrial%20disorders.pdf
https://discovery.ucl.ac.uk/id/eprint/10185582/

المؤلفون: Palenikova, P, Harbour, ME, Ding, SJ, Fearnley, IM, Van Haute, L, Rorbach, J, Scavetta, R, Minczuk, M, Rebelo-Guiomar, P

المصدر: Biochimica et biophysica acta. Bioenergetics. 1862(6):148399

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146372470

المؤلفون: 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, Goel, H, Helman, G, Houlden, H, Lenaers, G, Mention, K, Murphy, D, Nandeesh, B, Olimpio, C, Powell, CA, Preethish-Kumar, V, Procaccio, V, Rius, R, Rebelo-Guiomar, P, Simons, C, Vengalil, S, Zaki, MS, Ziegler, A, Thorburn, DR, Stroud, DA, Maroofian, R, Christodoulou, J, Gustafsson, C, Nalini, A, Lochmüller, H, Minczuk, M, Horvath, R

Relation: NHMRC/1140851; NHMRC/1140906; pii: 10.1038/s41467-023-36277-7; Van Haute, L., O'Connor, E., Díaz-Maldonado, H., Munro, B., Polavarapu, K., Hock, D. H., Arunachal, G., Athanasiou-Fragkouli, A., Bardhan, M., Barth, M., Bonneau, D., Brunetti-Pierri, N., Cappuccio, G., Caruana, N. J., Dominik, N., Goel, H., Helman, G., Houlden, H., Lenaers, G. ,. Horvath, R. (2023). TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun, 14 (1), pp.1009-. https://doi.org/10.1038/s41467-023-36277-7.; http://hdl.handle.net/11343/327342

الاتاحة: http://hdl.handle.net/11343/327342

المؤلفون: Burr, SP, Klimm, F, Glynos, A, Prater, M, Sendon, P, Nash, P, Powell, CA, Simard, M-L, Bonekamp, NA, Charl, J, Diaz, H, Bozhilova, LV, Nie, Y, Zhang, H, Frison, M, Falkenberg, M, Jones, N, Minczuk, M, Stewart, JB, Chinnery, PF

المصدر: 1229.E21 ; 1212

جغرافية الموضوع: United States

Relation: Cell; http://hdl.handle.net/10044/1/102870

الاتاحة: http://hdl.handle.net/10044/1/102870
https://doi.org/10.1016/j.cell.2023.01.034

المؤلفون: 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, XP, Minczuk, M, Hafner, M, Benhalevy, D, Sarshad, AA, Atanassov, I, Hallberg, BM, Rorbach, J

المصدر: Nature communications. 15(1):5664

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:158859379

المؤلفون: Pearce, SF, Rorbach, J, Van Haute, L, D'Souza, AR, Rebelo-Guiomar, P, Powell, CA, Brierley, I, Firth, AE, Minczuk, M

المصدر: eLife. 6

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136324247

المؤلفون: 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, Hanna, MG, Joost, K, Cotta, A, Paim, JF, Navarro, MM, Duff, J, Mattmann, A, Chapman, K, Servidei, S, Della Marina, A, Uusimaa, J, Roos, A, Mootha, V, Hirano, M, Tulinius, M, Giri, M, Hoffmann, EP, Lochmuller, H, DiMauro, S, Minczuk, M, Chinnery, PF, Muller, JS, Horvath, R

المصدر: The EMBO journal. 39(23):e105364

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145020243

المؤلفون: Di Nottia M., Marchese M., Verrigni D., Mutti C. D., 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., Bertini E., Santorelli F. M., Carrozzo R.

المساهمون: Di Nottia, M., Marchese, M., Verrigni, D., Mutti, C. D., 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., Bertini, E., Santorelli, F. M., Carrozzo, R.

مصطلحات موضوعية: Mitochondrial disorder, Mitochondrial protein synthesi, Mitoribosome, Molecular modeling, Movement disorder, MRPL24, Protein interaction, Zebrafish

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32344152; info:eu-repo/semantics/altIdentifier/wos/WOS:000542971000010; volume:141; numberofpages:11; journal:NEUROBIOLOGY OF DISEASE; https://hdl.handle.net/11568/1042496; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084253136; https://www.sciencedirect.com/science/article/pii/S0969996120301558

الاتاحة: https://hdl.handle.net/11568/1042496
https://doi.org/10.1016/j.nbd.2020.104880
https://www.sciencedirect.com/science/article/pii/S0969996120301558

المؤلفون: Kruppa, AJ, Kishi-Itakura, C, Masters, TA, Rorbach, JE, Grice, GL, Kendrick-Jones, J, Nathan, JA, Minczuk, M, Buss, F

المصدر: Developmental cell. 44(4):484

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137737181

المؤلفون: Tan, Benedict, Mutti, C. D., Shi, Yonghong, Xie, Xie, Zhu, Xuefeng, Silva-Pinheiro, P., Menger, K. E., Diaz-Maldonado, Hector, Wei, W., Nicholls, T. J., Chinnery, P. F., Minczuk, M., Falkenberg, Maria, 1968, Gustafsson, Claes M, 1966

المصدر: Molecular Cell. 82(19):3646-3660

مصطلحات موضوعية: Cell and Molecular Biology, Cell- och molekylärbiologi, heavy-strand, transcription factor, DNA-replication, rna, sequence, initiation, mtdna, identification, molecule, expression, Biochemistry & Molecular Biology, Cell Biology

URL الوصول: https://gup.ub.gu.se/publication/324448

المؤلفون: Patel, D, Rorbach, J, Downes, K, Szukszto, MJ, Pekalski, ML, Minczuk, M

المصدر: Scientific reports. 7(1):12886

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136803178

المؤلفون: Hathazi, D. (Denisa), Griffin, H. (Helen), Jennings, M. J. (Matthew J.), Giunta, M. (Michele), Powell, C. (Christopher), Pearce, S. F. (Sarah F.), Munro, B. (Benjamin), Wei, W. (Wei), Boczonadi, V. (Veronika), Poulton, J. (Joanna), Pyle, A. (Angela), Calabrese, C. (Claudia), Gomez‐Duran, A. (Aurora), Schara, U. (Ulrike), Pitceathly, R. D. (Robert D. S.), Hanna, M. G. (Michael G.), Joost, K. (Kairit), Cotta, A. (Ana), Paim, J. F. (Julia Filardi), Navarro, M. M. (Monica Machado), Duff, J. (Jennifer), Mattman, A. (Andre), Chapman, K. (Kristine), Servidei, S. (Serenella), Marina, A. D. (Adela Della), Uusimaa, J. (Johanna), Roos, A. (Andreas), Mootha, V. (Vamsi), Hirano, M. (Michio), Tulinius, M. (Mar), Giri, M. (Mamta), Hoffmann, E. P. (Eric P.), Lochmüller, H. (Hanns), DiMauro, S. (Salvatore), Minczuk, M. (Michal), Chinnery, P. F. (Patrick F.), Müller, J. S. (Juliane S.), Horvath, R. (Rita)

مصطلحات موضوعية: homoplasmic tRNA mutation, igenic inheritance, mitochondrial myopathy, reversible infantile respiratory chain deficiency

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe202101222504

المؤلفون: 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, Adamson, AD, Humphreys, NE, Rebelo-Guiomar, P, Minczuk, M, Bechtold, DA, Loudon, A, Ray, D

المصدر: eLife , 9 , Article e50705. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10103182/1/Cardiac%20mitochondrial%20function%20depends%20on%20BUD23%20mediated%20ribosome%20programming.pdf; https://discovery.ucl.ac.uk/id/eprint/10103182/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10103182/1/Cardiac%20mitochondrial%20function%20depends%20on%20BUD23%20mediated%20ribosome%20programming.pdf
https://discovery.ucl.ac.uk/id/eprint/10103182/

المؤلفون: Nieminuszczy, J, Broderick, R, Bellani, MA, Smethurst, E, Schwab, RA, Cherdyntseva, V, Evmorfopoulou, T, Lin, Y-L, Minczuk, M, Pasero, P, Gagos, S, Seidman, MM, Niedzwiedz, W

المساهمون: Niedzwiedz, Wojciech

مصطلحات موضوعية: Hela Cells, Humans, Neoplasms, Genomic Instability, Exodeoxyribonucleases, DNA Helicases, BRCA1 Protein, BRCA2 Protein, DNA Replication, RecQ Helicases, Synthetic Lethal Mutations

وصف الملف: Print-Electronic; 619.e6; application/pdf

Relation: Molecular cell, 2019, 75 (3), pp. 605 - 619.e6; https://repository.icr.ac.uk/handle/internal/3683

الاتاحة: https://repository.icr.ac.uk/handle/internal/3683
https://doi.org/10.1016/j.molcel.2019.05.026

المؤلفون: 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, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

المساهمون: 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, Fedida, A, Ferrero, I, Gallagher, Rc, Garesse, R, Gilberti, M, González, C, Gowan, K, Habib, C, Halligan, Rk, Kalfon, L, Knight, K, Lefeber, D, Mamblona, L, Mandel, H, Mory, A, Ottoson, J, Paperna, T, Pruijn, Gjm, Rebelo-Guiomar, Pf, Saada, A, Sainz, B Jr, Salvemini, H, Schoots, Mh, Smeitink, Ja, Szukszto, Mj, Ter Horst, Hj, van den Brandt, F, van Spronsen, Fj, Veltman, Ja, Wartchow, E, Wintjes, Lt, Zohar, Y, Fernández-Moreno, Ma, Baris, Hn, Donnini, C, Minczuk, M, Rodenburg, Rj, Van Hove, Jlk.

مصطلحات موضوعية: Human mitochondrial disease, aminoacyl-tRNA synthetase, GatCAB aminoacyl-tRNA amidotransferase complex, Saccharomyces cerevisiae as model organism, ScHER2, ScPET112

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000446333400005; volume:9; issue:1; firstpage:4065; lastpage:4078; numberofpages:14; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11381/2850979; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054370449; https://www.nature.com/articles/s41467-018-06250-w.pdf

الاتاحة: http://hdl.handle.net/11381/2850979
https://doi.org/10.1038/s41467-018-06250-w
https://www.nature.com/articles/s41467-018-06250-w.pdf