Mictchondrial Ribosomal Pentatricopeptide Domain Proteins Regulate Protein Synthesis in Health & Disease

Rackham, Oliver (Chief Investigator)
Filipovska, Aleksandra (Investigator 02)
Small, Ian (Investigator 03)
Whelan, James (Investigator 04)

10 Article
2 Review article

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2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
Care4Rare Canada Consortium, Lee, R. G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L. G., Priyadarshi, A., Peng, L., Nuske, M. R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y. A., Boycott, K. M., Geraghty, M. T., & 12 othersKlinken, J. B., Ferdinandusse, S., Zhou, Y., Walsh, R., Marcellin, E., Thorburn, D. R., Rosciolli, T., Fletcher, J., Rackham, O., Vaz, F. M., Reid, G. E. & Filipovska, A., 1 Nov 2022, In: Human Molecular Genetics. 31, 21, p. 3597-3612 16 p.
Research output: Contribution to journal › Article › peer-review

Open Access
6 Citations (Scopus)
2021
OmicsVolcano: Software for intuitive visualization and interactive exploration of high-throughput biological data
Kuznetsova, I., Lugmayr, A., Rackham, O. & Filipovska, A., 19 Mar 2021, In: STAR Protocols. 2, 1, 100279.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Citations (Scopus)
2020
Cardiolipin is required for membrane docking of mitochondrial ribosomes and protein synthesis
Lee, R. G., Gao, J., Siira, S. J., Shearwood, A. M., Ermer, J. A., Hofferek, V., Mathews, J. C., Zheng, M., Reid, G. E., Rackham, O. & Filipovska, A., 24 Jul 2020, In: Journal of Cell Science. 133, 14
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Open Access
19 Citations (Scopus)
Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial disease
Ferreira, N., Andoniou, C. E., Perks, K. L., Ermer, J. A., Rudler, D. L., Rossetti, G., Periyakaruppiah, A., Wong, J. K. Y., Rackham, O., Noakes, P. G., Degli-Esposti, M. A. & Filipovska, A., Mar 2020, In: PLoS Genetics. 16, 3, e1008604.
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Open Access
1 Citation (Scopus)
2018
Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction
Lee, R. G., Sedghi, M., Salari, M., Shearwood, A-M. J., Stentenbach, M., Kariminejad, A., Goullee, H., Rackham, O., Laing, N. G., Tajsharghi, H. & Filipovska, A., Oct 2018, In: Neurology: Genetics. 4, 5, 10 p., e276.
Research output: Contribution to journal › Article › peer-review

Open Access
22 Citations (Scopus)
PTCD1 Is Required for 16S rRNA Maturation Complex Stability and Mitochondrial Ribosome Assembly
Perks, K. L., Rossetti, G., Kuznetsova, I., Hughes, L. A., Ermer, J. A., Ferreira, N., Busch, J. D., Rudler, D. L., Spahr, H., Schöndorf, T., Shearwood, A. M. J., Viola, H. M., Siira, S. J., Hool, L. C., Milenkovic, D., Larsson, N. G., Rackham, O. & Filipovska, A., 3 Apr 2018, In: Cell Reports. 23, 1, p. 127-142 16 p.
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Open Access
38 Citations (Scopus)
2017
Defects in RNA metabolism in mitochondrial disease
Siira, S. J., Shearwood, A. M. J., Bracken, C. P., Rackham, O. & Filipovska, A., 1 Apr 2017, In: International Journal of Biochemistry and Cell Biology. 85, p. 106-113 8 p.
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Open Access
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5 Citations (Scopus)

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LRPPRC-mediated folding of the mitochondrial transcriptome
Siira, S. J., Spåhr, H., Shearwood, A. M. J., Ruzzenente, B., Larsson, N. G., Rackham, O. & Filipovska, A., 1 Dec 2017, In: Nature Communications. 8, 1, 1532.
Research output: Contribution to journal › Article › peer-review

Open Access
63 Citations (Scopus)
2016
Hierarchical RNA Processing Is Required for Mitochondrial Ribosome Assembly
Rackham, O., Busch, J. D., Matic, S., Siira, S., Kuznetsova, I., Atanassov, I., Ermer, J., Shearwood, A-M., Richman, T., Stewart, J. B., Mourier, A., Milenkovic, D., Larsson, N. G. & Filipovska, A., 16 Aug 2016, In: Cell Reports. 16, 7, p. 1874-1890 17 p.
Research output: Contribution to journal › Article › peer-review

Open Access
87 Citations (Scopus)
Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice
Richman, T., Spahr, H., Ermer, J., Davies, S., Viola, H., Bates, K., Papadimitriou, J., Hool, L., Rodger, J., Larsson, N. G., Rackham, O. & Filipovska, A., 20 Jun 2016, In: Nature Communications. 7, p. 1-14 11884.
Research output: Contribution to journal › Article › peer-review

Open Access
67 Citations (Scopus)

Mictchondrial Ribosomal Pentatricopeptide Domain Proteins Regulate Protein Synthesis in Health & Disease

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