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Page 1
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.
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.
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Azmanov DN, Siira SJ, Chamova T, Kaprelyan A, Guergueltcheva V, Shearwood AJ, Liu G, Morar B, Rackham O, Bynevelt M, Grudkova M, Kamenov Z, Svechtarov V, Tournev I, Kalaydjieva L, Filipovska A. Azmanov DN, et al. Among authors: filipovska a. Hum Mol Genet. 2016 Oct 1;25(19):4302-4314. doi: 10.1093/hmg/ddw263. Epub 2016 Aug 9. Hum Mol Genet. 2016. PMID: 27506977
Complex I within oxidatively stressed bovine heart mitochondria is glutathionylated on Cys-531 and Cys-704 of the 75-kDa subunit: potential role of CYS residues in decreasing oxidative damage.
Hurd TR, Requejo R, Filipovska A, Brown S, Prime TA, Robinson AJ, Fearnley IM, Murphy MP. Hurd TR, et al. Among authors: filipovska a. J Biol Chem. 2008 Sep 5;283(36):24801-15. doi: 10.1074/jbc.M803432200. Epub 2008 Jul 8. J Biol Chem. 2008. PMID: 18611857 Free PMC article.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT. Akin L, et al. Among authors: filipovska a. Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906446 Free PMC article.
Mitochondria-targeted antioxidants in the treatment of disease.
Smith RA, Adlam VJ, Blaikie FH, Manas AR, Porteous CM, James AM, Ross MF, Logan A, Cochemé HM, Trnka J, Prime TA, Abakumova I, Jones BA, Filipovska A, Murphy MP. Smith RA, et al. Among authors: filipovska a. Ann N Y Acad Sci. 2008 Dec;1147:105-11. doi: 10.1196/annals.1427.003. Ann N Y Acad Sci. 2008. PMID: 19076435 Review.
130 results