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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
Ivanov IS, Azmanov DN, Ivanova MB, Chamova T, Pacheva IH, Panova MV, Song S, Morar B, Yordanova RV, Galabova FK, Sotkova IG, Linev AJ, Bitchev S, Shearwood AM, Kancheva D, Gabrikova D, Karcagi V, Guergueltcheva V, Geneva IE, Bozhinova V, Stoyanova VK, Kremensky I, Jordanova A, Savov A, Horvath R, Brown MA, Tournev I, Filipovska A, Kalaydjieva L. Ivanov IS, et al. Among authors: filipovska a. Mol Genet Metab. 2014 Sep-Oct;113(1-2):76-83. doi: 10.1016/j.ymgme.2014.07.017. Epub 2014 Jul 21. Mol Genet Metab. 2014. PMID: 25087164 Free article.
Temporal landscape of mitochondrial proteostasis governed by the UPRmt.
Uoselis L, Lindblom R, Lam WK, Küng CJ, Skulsuppaisarn M, Khuu G, Nguyen TN, Rudler DL, Filipovska A, Schittenhelm RB, Lazarou M. Uoselis L, et al. Among authors: filipovska a. Sci Adv. 2023 Sep 22;9(38):eadh8228. doi: 10.1126/sciadv.adh8228. Epub 2023 Sep 22. Sci Adv. 2023. PMID: 37738349 Free PMC article.
ATFS-1 counteracts mitochondrial DNA damage by promoting repair over transcription.
Dai CY, Ng CC, Hung GCC, Kirmes I, Hughes LA, Du Y, Brosnan CA, Ahier A, Hahn A, Haynes CM, Rackham O, Filipovska A, Zuryn S. Dai CY, et al. Among authors: filipovska a. Nat Cell Biol. 2023 Aug;25(8):1111-1120. doi: 10.1038/s41556-023-01192-y. Epub 2023 Jul 17. Nat Cell Biol. 2023. PMID: 37460695
Substrate and inhibitor specificities differ between human cytosolic and mitochondrial thioredoxin reductases: Implications for development of specific inhibitors.
Rackham O, Shearwood AM, Thyer R, McNamara E, Davies SM, Callus BA, Miranda-Vizuete A, Berners-Price SJ, Cheng Q, Arnér ES, Filipovska A. Rackham O, et al. Among authors: filipovska a. Free Radic Biol Med. 2011 Mar 15;50(6):689-99. doi: 10.1016/j.freeradbiomed.2010.12.015. Epub 2010 Dec 21. Free Radic Biol Med. 2011. PMID: 21172426 Free article.
The human mitochondrial transcriptome.
Mercer TR, Neph S, Dinger ME, Crawford J, Smith MA, Shearwood AM, Haugen E, Bracken CP, Rackham O, Stamatoyannopoulos JA, Filipovska A, Mattick JS. Mercer TR, et al. Among authors: filipovska a. Cell. 2011 Aug 19;146(4):645-58. doi: 10.1016/j.cell.2011.06.051. Cell. 2011. PMID: 21854988 Free PMC article.
RNA processing in human mitochondria.
Sanchez MI, Mercer TR, Davies SM, Shearwood AM, Nygård KK, Richman TR, Mattick JS, Rackham O, Filipovska A. Sanchez MI, et al. Among authors: filipovska a. Cell Cycle. 2011 Sep 1;10(17):2904-16. doi: 10.4161/cc.10.17.17060. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857155
130 results