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Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Projects
- 1 Active
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Understanding complex I assembly for better diagnosis and future treatment
1/01/22 → 31/12/26
Project: Research
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Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder
Van Bergen, N. J., Massey, S., Stait, T., Ellery, M., Reljić, B., Formosa, L. E., Quigley, A., Dottori, M., Thorburn, D., Stroud, D. A. & Christodoulou, J., Jul 2021, In: Neurobiology of Disease. 155, 14 p., 105370.Research output: Contribution to journal › Article › Research › peer-review
Open AccessFile -
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
Frazier, A. E., Compton, A. G., Kishita, Y., Hock, D. H., Welch, A. E., Amarasekera, S. S. C., Rius, R., Formosa, L. E., Imai-Okazaki, A., Francis, D., Wang, M., Lake, N. J., Tregoning, S., Jabbari, J. S., Lucattini, A., Nitta, K. R., Ohtake, A., Murayama, K., Amor, D. J., McGillivray, G. & 25 others, , 15 Jan 2021, In: Med. 2, 1, p. 49-73.e10 35 p.Research output: Contribution to journal › Article › Research › peer-review
Open Access11 Citations (Scopus) -
Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
Formosa, L. E., Reljic, B., Sharpe, A. J., Hock, D. H., Muellner-Wong, L., Stroud, D. A. & Ryan, M. T., 27 Apr 2021, In: Proceedings of the National Academy of Sciences of the United States of America. 118, 17, 9 p., e2019665118.Research output: Contribution to journal › Article › Research › peer-review
4 Citations (Scopus) -
SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells
Fernández-Vizarra, E., López-Calcerrada, S., Formosa, L. E., Pérez-Pérez, R., Ding, S., Fearnley, I. M., Arenas, J., Martín, M. A., Zeviani, M., Ryan, M. T. & Ugalde, C., 1 Jul 2021, In: BBA Bioenergetics. 1862, 7, 11 p., 148414.Research output: Contribution to journal › Article › Research › peer-review
8 Citations (Scopus) -
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., Aug 2020, In: Clinical Genetics. 98, 2, p. 155-165 11 p.Research output: Contribution to journal › Article › Other › peer-review
8 Citations (Scopus)