Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Micol Gilberti"'
1
Akademický článek
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Autor: 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
Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz: https://doaj.org/article/5e2c03b6081043e5add48aba3812d059
Zobrazit plný text záznamu
3
Akademický článek
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Autor: Micol Gilberti, Enrico Baruffini, Claudia Donnini, Cristina Dallabona
Publikováno v: PLoS ONE, Vol 13, Iss 10, p e0205014 (2018)
Mitochondrial DNA depletion syndromes (MDDS) are a genetically and clinically heterogeneous group of human diseases caused by mutations in nuclear genes and characterized by a severe reduction in mitochondrial DNA (mtDNA) copy number leading to impai
Externí odkaz: https://doaj.org/article/a45e6d1b496d49ac910a4908843d68eb
Zobrazit plný text záznamu
4
A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool
Autor: Claudia Donnini, Micol Gilberti, Enrico Baruffini, Cristina Dallabona, Tiziana Lodi, Giulia di Punzio
Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 22
International Journal of Molecular Sciences, Vol 22, Iss 12223, p 12223 (2021)
Mitochondrial DNA depletion syndromes (MDS) are clinically heterogenous and often severe diseases, characterized by a reduction of the number of copies of mitochondrial DNA (mtDNA) in affected tissues. In the context of MDS, yeast has proved to be bo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753a655ce8ed0b8714e29a5c3dab6aa2
http://europepmc.org/articles/PMC8621932
Zobrazit plný text záznamu
6
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Autor: 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
Publikováno v: 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
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidation reactio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96e045c0b287003de5f67c13f22fb98
https://www.repository.cam.ac.uk/handle/1810/286571
Zobrazit plný text záznamu
7
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
Autor: Holger Prokisch, Cheryl Longman, Cristina Dallabona, Langping He, Maria Elena Farrugia, Laurence A. Bindoff, John Dean, Micol Gilberti, Richard K. Petty, Charlotte V. Y. Knowles, Tobias B. Haack, Sophie L. Chin, Ewen W. Sommerville, Marianne de Visser, Yi Shiau Ng, Robert McFarland, Robert W. Taylor, Charlotte L. Alston, Grainne S. Gorman, Andrew M. Schaefer, John Rawles, David Murdoch, Gavin Falkous, Douglass M. Turnbull, Claudia Donnini
Publikováno v: JAMA Neurol. 74, 686-694 (2017)
JAMA Neurology, 74(6), 686-694. American Medical Association
Importance: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::913acd8b948420064ef15cbdcd03b4a2
https://doi.org/10.1001/jamaneurol.2016.4357
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje