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Research Output 2013 2019

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2019

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Lake, N. J., Formosa, L. E., Stroud, D. A., Ryan, M. T., Calvo, S. E., Mootha, V. K., Morar, B., Procopis, P. G., Christodoulou, J., Compton, A. G. & Thorburn, D. R., 1 Jul 2019, In : Human Mutation. 40, 7, p. 893-898 6 p.

Research output: Contribution to journalArticleResearchpeer-review

2018
17 Citations (Scopus)

Building a complex complex: Assembly of mitochondrial respiratory chain complex I

Formosa, L. E., Dibley, M. G., Stroud, D. A. & Ryan, M. T., Apr 2018, In : Seminars in Cell and Developmental Biology. 76, p. 154-162 9 p.

Research output: Contribution to journalArticleOtherpeer-review

7 Citations (Scopus)

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Thompson, K., Mai, N., Oláhová, M., Scialó, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B. J. & 5 others, Bonnen, P. E., Ryan, M. T., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N. & Taylor, R. W., 1 Nov 2018, In : EMBO Molecular Medicine. 10, 11, 13 p., e9060.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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2017
10 Citations (Scopus)

Preservation of skeletal muscle mitochondrial content in older adults: relationship between mitochondria, fibre type and high-intensity exercise training

Wyckelsma, V. L., Levinger, I., McKenna, M. J., Formosa, L. E., Ryan, M. T., Petersen, A. C., Anderson, M. J. & Murphy, R. M., 1 Jun 2017, In : The Journal of Physiology. 595, 11, p. 3345-3359 15 p.

Research output: Contribution to journalArticleResearchpeer-review

2016
88 Citations (Scopus)

Accessory subunits are integral for assembly and function of human mitochondrial complex I

Stroud, D. A., Surgenor, E. E., Formosa, L. E., Reljic, B., Frazier, A. E., Dibley, M. G., Osellame, L. D., Stait, T., Beilharz, T. H., Thorburn, D. R., Salim, A. & Ryan, M. T., 6 Oct 2016, In : Nature. 538, 7623, p. 123-126 4 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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18 Citations (Scopus)

Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype

Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Olahova, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., Yarham, J. W., He, L., De Paepe, B., Vanlander, A. V., Seneca, S., Feichtinger, R. G., Płoski, R., Rokicki, D. & 11 others, Pronicka, E., Haller, R. G., Van Hove, J. L. K., Bahlo, M., Mayr, J. A., Van Coster, R., Prokisch, H., Wittig, I., Ryan, M. T., Thorburn, D. R. & Taylor, R. W., 7 Jul 2016, In : American Journal of Human Genetics. 99, 1, p. 217-227 11 p.

Research output: Contribution to journalArticleOtherpeer-review

Open Access
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2015
2 Citations (Scopus)

A role for the mitochondrial protein Mrpl44 in maintaining OXPHOS capacity

Yeo, J. H. C., Skinner, J. P. J., Bird, M. J., Formosa, L. E., Zhang, J. G., Kluck, R. M., Belz, G. T. & Chong, M. M. W., 29 Jul 2015, In : PLoS ONE. 10, 7, 16 p., e0134326.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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28 Citations (Scopus)

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

Formosa, L. E., Mimaki, M., Frazier, A. E., McKenzie, M., Stait, T. L., Thorburn, D. R., Stroud, D. A. & Ryan, M. T., 2015, In : Human Molecular Genetics. 24, 10, p. 2952 - 2965 14 p.

Research output: Contribution to journalArticleResearchpeer-review

2013
43 Citations (Scopus)

Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human ndufa9 protein is essential for stabilizing the junction between membrane and matrix arms of complex i

Stroud, D. A., Formosa, L. E., Wijeyeratne, X. W., Nguyen, T. N. & Ryan, M. T., 18 Jan 2013, In : Journal of Biological Chemistry. 288, 3, p. 1685-1690 6 p.

Research output: Contribution to journalArticleResearchpeer-review