Loss-of-function mutations in MGME1 impair mtDNA replication and cause multi-systemic mitochondrial disease

Known disease mechanisms in mitochondrial DNA (mtDNA) maintenance disorders alter either the mitochondrial replication machinery (POLG(1), POLG2(2) and C10orf2(3)) or the biosynthesis pathways of deoxyribonucleoside 5′-triphosphates for mtDNA synthesis(4–11). However, in many of these disorders, the...

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Main Authors: Kornblum, Cornelia, Nicholls, Thomas J, Haack, Tobias B., Schöler, Susanne, Peeva, Viktoriya, Danhauser, Katharina, Hallmann, Kerstin, Zsurka, Gábor, Rorbach, Joanna, Iuso, Arcangela, Wieland, Thomas, Sciacco, Monica, Ronchi, Dario, Comi, Giacomo P., Moggio, Maurizio, Quinzii, Catarina M., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Klopstock, Thomas, Strom, Tim M., Meitinger, Thomas, Minczuk, Michal, Kunz, Wolfram S., Prokisch, Holger
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3678843/
https://ncbi.nlm.nih.gov/pubmed/23313956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2501
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