Zobrazeno 1 - 2
of 2
pro vyhledávání: '"genetics [Electron Transport Complex I]"'
Autor:
Ilona Mossbrugger, Frauke Neff, Ilka Wittig, Evelyn Schiller, Wolfgang Wurst, Valentina Strecker, Andreas Bender, Anja Schrewe, Thomas Floss, Sabine M. Hölter, Valerie Gailus-Durner, Helmut Fuchs, Julia Calzada-Wack, Thomas Meitinger, Thomas Klopstock, Raffi Bekeredjian, Martin Hrabě de Angelis, Michaela Aichler, Tina Wenz, Holger Prokisch, Ramona Zeh, Lore Becker, Dirk Janik, Iulia Dumitru, Leticia Quintanilla-Fend, Eva Kling, Axel Walch
Publikováno v:
PLOS ONE
PLoS ONE, Vol 9, Iss 12, p e114918 (2014)
PLOS ONE 9(12), e114918 (2014). doi:10.1371/journal.pone.0114918
PLoS ONE
PLoS ONE 9:e114918 (2014)
PLoS ONE, Vol 9, Iss 12, p e114918 (2014)
PLOS ONE 9(12), e114918 (2014). doi:10.1371/journal.pone.0114918
PLoS ONE
PLoS ONE 9:e114918 (2014)
Recently, mutations in the mitochondrial translation optimization factor 1 gene (MTO1) were identified as causative in children with hypertrophic cardiomyopathy, lactic acidosis and respiratory chain defect. Here, we describe an MTO1-deficient mouse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b033069bfd68b8c8ab8906cb3f52db82
https://hdl.handle.net/11858/00-001M-0000-0026-BE61-511858/00-001M-0000-0026-BE5F-D
https://hdl.handle.net/11858/00-001M-0000-0026-BE61-511858/00-001M-0000-0026-BE5F-D
Autor:
Martina Bartolucci, Silvia Ravera, Paola Cuccarolo, Carlo Dufour, Isabella Panfoli, Enrico Cappelli, Daniele Vaccaro, Paolo Degan
Publikováno v:
Trends in Molecular Medicine. 19:513-514
Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these prot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec42e282117691fc1eb7b2bfee890c4c
https://doi.org/10.1016/j.molmed.2013.07.008
https://doi.org/10.1016/j.molmed.2013.07.008
