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  1. No Access

    Protocol

    Functional Assessment of Mitochondrial DNA Maintenance by Depletion and Repopulation Using 2’,3’-Dideoxycytidine in Cultured Cells

    The manipulation of mitochondrial DNA (mtDNA) copy number in cultured cells, using substances that interfere with DNA replication, is a useful tool to investigate various aspects of mtDNA maintenance. Here we ...

    Gábor Zsurka, Genevieve Trombly, Susanne Schöler, Daniel Blei… in Mitochondrial DNA (2023)

  2. No Access

    Article

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

    Michal Minczuk, Wolfram Kunz and colleagues report that loss-of-function mutations in MGME1 impair mitochondrial DNA replication and cause a multisystemic mitochondrial disease. Their functional studies show that...

    Cornelia Kornblum, Thomas J Nicholls, Tobias B Haack, Susanne Schöler… in Nature Genetics (2013)