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Page 1
Functional Assessment of Mitochondrial DNA Maintenance by Depletion and Repopulation Using 2',3'-Dideoxycytidine in Cultured Cells.
Methods Mol Biol. 2023;2615:229-240. doi: 10.1007/978-1-0716-2922-2_17.
Methods Mol Biol. 2023.
PMID: 36807796
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.
Kornblum C, et al. Among authors: scholer s.
Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.
Nat Genet. 2013.
PMID: 23313956
Free PMC article.
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Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M.
Nicholls TJ, et al. Among authors: scholer s.
Hum Mol Genet. 2014 Dec 1;23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30.
Hum Mol Genet. 2014.
PMID: 24986917
Free PMC article.
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Minocycline, a possible neuroprotective agent in Leber's hereditary optic neuropathy (LHON): studies of cybrid cells bearing 11,778 mutation.
Haroon MF, Fatima A, Schöler S, Gieseler A, Horn TF, Kirches E, Wolf G, Kreutzmann P.
Haroon MF, et al. Among authors: scholer s.
Neurobiol Dis. 2007 Dec;28(3):237-50. doi: 10.1016/j.nbd.2007.07.021. Epub 2007 Jul 28.
Neurobiol Dis. 2007.
PMID: 17822909
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