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Recent Advances in Mitochondrial Disease.
Craven L, Alston CL, Taylor RW, Turnbull DM. Craven L, et al. Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275. doi: 10.1146/annurev-genom-091416-035426. Epub 2017 Apr 17. Annu Rev Genomics Hum Genet. 2017. PMID: 28415858 Free article. Review.
Human mitochondrial nucleases.
Bruni F, Lightowlers RN, Chrzanowska-Lightowlers ZM. Bruni F, et al. FEBS J. 2017 Jun;284(12):1767-1777. doi: 10.1111/febs.13981. Epub 2017 Feb 1. FEBS J. 2017. PMID: 27926991 Free PMC article. Review.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Oláhová M, et al. J Inherit Metab Dis. 2017 Jan;40(1):121-130. doi: 10.1007/s10545-016-9977-2. Epub 2016 Sep 30. J Inherit Metab Dis. 2017. PMID: 27696117 Free PMC article.
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ, Pagliarini DJ. Floyd BJ, et al. Mol Cell. 2016 Aug 18;63(4):621-632. doi: 10.1016/j.molcel.2016.06.033. Epub 2016 Aug 4. Mol Cell. 2016. PMID: 27499296 Free PMC article.
SLIRP stabilizes LRPPRC via an RRM-PPR protein interface.
Spåhr H, Rozanska A, Li X, Atanassov I, Lightowlers RN, Chrzanowska-Lightowlers ZM, Rackham O, Larsson NG. Spåhr H, et al. Nucleic Acids Res. 2016 Aug 19;44(14):6868-82. doi: 10.1093/nar/gkw575. Epub 2016 Jun 28. Nucleic Acids Res. 2016. PMID: 27353330 Free PMC article.
13 results