Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Mara Doimo"'
Autor:
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
Abstract Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting
Externí odkaz:
https://doaj.org/article/0494d6719b26407982a6465aec056ef3
Autor:
Mara Doimo, Sanna Abrahamsson, Valentin L’Hôte, Mama Ndi, Rabindra Nath Das, Koit Aasumets, Andreas Berner, Steffi Goffart, Jaakko L.O. Pohjoismäki, Marcela Dávila López, Erik Chorell, Sjoerd Wanrooij
Mitochondrial DNA (mtDNA) replication stalling is considered an initial step in the formation of mtDNA deletions that associate with genetic inherited disorders and aging. However, the molecular details of how stalled replication forks lead to mtDNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9bda214bb0abccd1297c56c02bdab69
https://doi.org/10.1101/2022.06.08.495283
https://doi.org/10.1101/2022.06.08.495283
G-quadruplex (G4) DNA structures are implicated in central biological processes and are considered promising therapeutic targets because of their links to human diseases such as cancer. However, functional details of how, when, and why G4 DNA structu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa44d781a5eecb11abad6512dd25a9e
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-193064
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-193064
G-quadruplex (G4) DNA structures are implicated in central biological processes and are considered promising therapeutic targets because of their links to human diseases such as cancer. However, functional details of how, when, and why G4 DNA structu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7e97cc8af5a8fd853092369717915b2
https://doi.org/10.1101/2021.04.07.438780
https://doi.org/10.1101/2021.04.07.438780
Autor:
Rajendra Kumar, Kazutoshi Kasho, Ikenna Obi, Kristoffer Brännström, Rabindra Nath Das, Parham L. Pourbozorgi, James E. Mason, Jan Jamroskovic, Nasim Sabouri, Mattias Hedenström, Mara Doimo, Sjoerd Wanrooij, Sebastian Sulis Sato, Marco Deiana, Erik Chorell, Almaz Akhunzianov, Paolo Medini, Daniel Öhlund, Karam Chand
Publikováno v:
Journal of the American Chemical Society
The signal transducer and activator of transcription 3 (STAT3) protein is a master regulator of most key hallmarks and enablers of cancer, including cell proliferation and the response to DNA damage. G-Quadruplex (G4) structures are four-stranded non
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f65413fad2479ca1592337e387af21cd
https://pubmed.ncbi.nlm.nih.gov/31990532
https://pubmed.ncbi.nlm.nih.gov/31990532
Part of the genetic information in human cells resides in the mitochondria. Faithful maintenance of mitochondrial deoxyribonucleic acid (mtDNA) is crucial for the oxidative phosphorylation system t ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8d545fa6036873130c747ec628ef13f
https://doi.org/10.1016/b978-0-12-819656-4.00001-2
https://doi.org/10.1016/b978-0-12-819656-4.00001-2
Autor:
Alessandro Achilli, Marcella Attimonelli, Sandra R. Bacman, Antoni Barrientos, Michael V. Berridge, Stephen P. Burr, Claudia Calabrese, Francesco Maria Calabrese, Patrick F. Chinnery, Monica De Luise, Francisca Diaz, Mara Doimo, Flavia Fontanesi, Yi Fu, Payam A. Gammage, Caterina Garone, Giuseppe Gasparre, Anna Ghelli, Giulia Girolimetti, Ruth I.C. Glasgow, Aurora Gomez-Duran, Carole Grasso, Patries M. Herst, Ian James Holt, Luisa Iommarini, Dongchon Kang, Ivana Kurelac, Albert Z. Lim, Marie T. Lott, Shigeru Matsuda, Robert McFarland, Michal Minczuk, Carlos T. Moraes, Thomas J. Nicholls, Monika Oláhová, Anna Olivieri, Annika Pfeiffer, Pedro Pinheiro, Robert D.S. Pitceathly, Anna Maria Porcelli, Roberto Preste, Vincent Procaccio, Corinne Quadalti, Shamima Rahman, Aurelio Reyes, Ornella Semino, Agnel Sfeir, Zhang Shiping, Elaine Ayres Sia, Antonella Spinazzola, Alexis Stein, Karolina Szczepanowska, Adriano Tagliabracci, Robert W. Taylor, Marco Tigano, Antonio Torroni, Aleksandra Trifunovic, Chiara Turchi, Ornella Vitale, Douglas C. Wallace, Paulina H. Wanrooij, Sjoerd Wanrooij, Takehiro Yasukawa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ea1ad3b2e56937d48e7d22d8fc682a2
https://doi.org/10.1016/b978-0-12-819656-4.00024-3
https://doi.org/10.1016/b978-0-12-819656-4.00024-3
Autor:
Eva Trevisson, Plácido Navas, Friedhelm Hildebrandt, Manuel Jesús Acosta, Maria Andrea Desbats, Cristina Calderan, Cristina Cerqua, Leonardo Salviati, Geppo Sartori, Shazia Ashraf, Matteo Cassina, Luis Vazquez Fonseca, Mara Doimo
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Human Mutation
instname
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Human Mutation
© 2017 The Authors.
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbo
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2e6da796a18f326186d32ccf60ada6
http://hdl.handle.net/10261/242405
http://hdl.handle.net/10261/242405
Autor:
Eva Trevisson, Sabrina Sacconi, Leonardo Salviati, Geppo Sartori, Maria Cristina Baldoin, Giuseppe Basso, Cristina Cerqua, Maria Andrea Desbats, Valeria Morbidoni, Mara Doimo, Chiara Frasson
Cytochrome c oxidase (COX), complex IV of the mitochondrial respiratory chain, is comprised of 14 structural subunits, several prosthetic groups and metal cofactors, among which copper. Its biosynthesis involves a number of ancillary proteins, encode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdfec2cabe47bf45545c1f044a7a1068
http://hdl.handle.net/11577/3258100
http://hdl.handle.net/11577/3258100
Autor:
Ilaria Bellezza, Carla Borri Voltattorni, Maria Andrea Desbats, Silvia Grottelli, Riccardo Montioli, Leonardo Salviati, Barbara Cellini, Mara Doimo
Gyrate atrophy (GA) is a rare recessive disorder characterized by progressive blindness, chorioretinal degeneration and systemic hyperornithinemia. GA is caused by point mutations in the gene encoding ornithine δ-aminotransferase (OAT), a tetrameric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::528baf9471a8ed2bf7fbcf08a96cecee
http://hdl.handle.net/11562/985814
http://hdl.handle.net/11562/985814