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Mitochondrial genome maintenance in health and disease.
Copeland WC, Longley MJ. Copeland WC, et al. DNA Repair (Amst). 2014 Jul;19:190-8. doi: 10.1016/j.dnarep.2014.03.010. Epub 2014 Apr 26. DNA Repair (Amst). 2014. PMID: 24780559 Free PMC article. Review.
DNA polymerase β: A missing link of the base excision repair machinery in mammalian mitochondria.
Prasad R, Çağlayan M, Dai DP, Nadalutti CA, Zhao ML, Gassman NR, Janoshazi AK, Stefanick DF, Horton JK, Krasich R, Longley MJ, Copeland WC, Griffith JD, Wilson SH. Prasad R, et al. Among authors: copeland wc. DNA Repair (Amst). 2017 Dec;60:77-88. doi: 10.1016/j.dnarep.2017.10.011. Epub 2017 Oct 28. DNA Repair (Amst). 2017. PMID: 29100041 Free PMC article.
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. Gustafson MA, et al. Among authors: copeland wc. PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019. PLoS One. 2019. PMID: 31479473 Free PMC article.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: copeland wc. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
Consequences of compromised mitochondrial genome integrity.
Gustafson MA, Sullivan ED, Copeland WC. Gustafson MA, et al. Among authors: copeland wc. DNA Repair (Amst). 2020 Sep;93:102916. doi: 10.1016/j.dnarep.2020.102916. DNA Repair (Amst). 2020. PMID: 33087282 Free PMC article. Review.
157 results