Research output per year
Research output per year
Research output
Search results
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2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
Yatsuka, Y., Kishita, Y., Formosa, L. E., Shimura, M., Nozaki, F., Fujii, T., Nitta, K. R., Ohtake, A., Murayama, K., Ryan, M. T. & Okazaki, Y., 8 May 2020, (Accepted/In press) In : Clinical Genetics. 11 p.Research output: Contribution to journal › Article › Other › peer-review
7 Citations (Scopus) -
Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I
Formosa, L. E., Muellner-Wong, L., Reljic, B., Sharpe, A. J., Jackson, T. D., Beilharz, T. H., Stojanovski, D., Lazarou, M., Stroud, D. A. & Ryan, M. T., 21 Apr 2020, In : Cell Reports. 31, 3, 14 p., 107541.Research output: Contribution to journal › Article › Research › peer-review
Open AccessFile9 Citations (Scopus) -
Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality
Quinn, K. M., Hussain, T., Kraus, F., Formosa, L. E., Lam, W. K., Dagley, M. J., Saunders, E. C., Assmus, L. M., Wynne-Jones, E., Loh, L., van de Sandt, C. E., Cooper, L., Good-Jacobson, K. L., Kedzierska, K., Mackay, L. K., McConville, M. J., Ramm, G., Ryan, M. T. & La Gruta, N. L., 5 Jun 2020, In : Nature Communications. 11, 1, 13 p., 2857.Research output: Contribution to journal › Article › Research › peer-review
Open AccessFile4 Citations (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 journal › Article › Research › peer-review
Open AccessFile14 Citations (Scopus) -
The 'mitochondrial contact site and cristae organising system' (MICOS) in health and human disease
Eramo, M. J., Lisnyak, V., Formosa, L. E. & Ryan, M. T., Mar 2020, In : Journal of Biochemistry. 167, 3, p. 243-255 13 p.Research output: Contribution to journal › Article › Research › peer-review
6 Citations (Scopus) -
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
3 Citations (Scopus) -
2018
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
56 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 AccessFile20 Citations (Scopus) -
2017
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
24 Citations (Scopus) -
2016
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 AccessFile157 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 AccessFile31 Citations (Scopus) -
2015
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 AccessFile4 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
41 Citations (Scopus) -
2013
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 : The Journal of Biological Chemistry. 288, 3, p. 1685-1690 6 p.Research output: Contribution to journal › Article › Research › peer-review
50 Citations (Scopus)