20132020
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Research Output 2013 2020

1 Citation (Scopus)

The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome Assembly

Dibley, M. G., Formosa, L. E., Lyu, B., Reljic, B., McGann, D., Muellner-Wong, L., Kraus, F., Sharpe, A. J., Stroud, D. A. & Ryan, M. T., 1 Jan 2020, In : Molecular & Cellular Proteomics. 19, 1, p. 65-77 13 p.

Research output: Contribution to journalArticleResearchpeer-review

Open Access
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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

20 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

4 Citations (Scopus)

Mitochondrial OXPHOS complex assembly lines

Formosa, L. E. & Ryan, M. T., 1 May 2018, In : Nature Cell Biology. 20, 5, p. 511-513 3 p.

Research output: Contribution to journalEditorialOtherpeer-review

10 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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