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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Lee RG, Balasubramaniam S, Stentenbach M, Kralj T, McCubbin T, Padman B, Smith J, Riley LG, Priyadarshi A, Peng L, Nuske MR, Webster R, Peacock K, Roberts P, Stark Z, Lemire G, Ito YA; Care4Rare Canada Consortium; Boycott KM, Geraghty MT, van Klinken JB, Ferdinandusse S, Zhou Y, Walsh R, Marcellin E, Thorburn DR, Rosciolli T, Fletcher J, Rackham O, Vaz FM, Reid GE, Filipovska A. Lee RG, et al. Among authors: filipovska a. Hum Mol Genet. 2022 Oct 28;31(21):3597-3612. doi: 10.1093/hmg/ddac040. Hum Mol Genet. 2022. PMID: 35147173 Free PMC article.
Building a Parallel Metabolism within the Cell.
Filipovska A, Rackham O. Filipovska A, et al. ACS Chem Biol. 2008 Jan 18;3(1):51-63. doi: 10.1021/cb700185e. Epub 2008 Jan 4. ACS Chem Biol. 2008. PMID: 18173237
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
125 results