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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Among authors: filipovska a. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 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
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
A bifunctional protein regulates mitochondrial protein synthesis.
Richman TR, Davies SM, Shearwood AM, Ermer JA, Scott LH, Hibbs ME, Rackham O, Filipovska A. Richman TR, et al. Among authors: filipovska a. Nucleic Acids Res. 2014 May;42(9):5483-94. doi: 10.1093/nar/gku179. Epub 2014 Mar 5. Nucleic Acids Res. 2014. PMID: 24598254 Free PMC article.
Mitochondria: Unusual features of the mammalian mitoribosome.
Richman TR, Rackham O, Filipovska A. Richman TR, et al. Among authors: filipovska a. Int J Biochem Cell Biol. 2014 Aug;53:115-20. doi: 10.1016/j.biocel.2014.05.011. Epub 2014 May 16. Int J Biochem Cell Biol. 2014. PMID: 24842111
Age-related proteostasis and metabolic alterations in Caspase-2-deficient mice.
Wilson CH, Shalini S, Filipovska A, Richman TR, Davies S, Martin SD, McGee SL, Puccini J, Nikolic A, Dorstyn L, Kumar S. Wilson CH, et al. Among authors: filipovska a. Cell Death Dis. 2015 Jan 22;6(1):e1615. doi: 10.1038/cddis.2014.567. Cell Death Dis. 2015. PMID: 25611376 Free PMC article.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Metodiev MD, et al. Among authors: filipovska a. Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28. Am J Hum Genet. 2016. PMID: 27132592 Free PMC article.
125 results