Research Output per year
Research Output 2013 2019
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 journal › Article › Research › peer-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 journal › Article › Other › peer-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, , 1 Nov 2018, In : EMBO Molecular Medicine. 10, 11, 13 p., e9060.Research output: Contribution to journal › Article › Research › peer-review
Open Access
File
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 journal › Article › Research › peer-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 journal › Article › Research › peer-review
Open Access
File
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, , 7 Jul 2016, In : American Journal of Human Genetics. 99, 1, p. 217-227 11 p.Research output: Contribution to journal › Article › Other › peer-review
Open Access
File
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 journal › Article › Research › peer-review
Open Access
File
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 journal › Article › Research › peer-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 journal › Article › Research › peer-review