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Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Among authors: polyak e. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.
Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.
Dingley SD, Polyak E, Ostrovsky J, Srinivasan S, Lee I, Rosenfeld AB, Tsukikawa M, Xiao R, Selak MA, Coon JJ, Hebert AS, Grimsrud PA, Kwon YJ, Pagliarini DJ, Gai X, Schurr TG, Hüttemann M, Nakamaru-Ogiso E, Falk MJ. Dingley SD, et al. Among authors: polyak e. J Mol Biol. 2014 May 29;426(11):2199-216. doi: 10.1016/j.jmb.2014.02.009. Epub 2014 Feb 14. J Mol Biol. 2014. PMID: 24534730 Free PMC article.
Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease.
Guha S, Mathew ND, Konkwo C, Ostrovsky J, Kwon YJ, Polyak E, Seiler C, Bennett M, Xiao R, Zhang Z, Nakamaru-Ogiso E, Falk MJ. Guha S, et al. Among authors: polyak e. Hum Mol Genet. 2021 May 12;30(7):536-551. doi: 10.1093/hmg/ddab059. Hum Mol Genet. 2021. PMID: 33640978 Free PMC article.
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.
Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ. Zhang Z, et al. Among authors: polyak e. PLoS One. 2013 Jul 24;8(7):e69282. doi: 10.1371/journal.pone.0069282. Print 2013. PLoS One. 2013. PMID: 23894440 Free PMC article.
41 results