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

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, Wong, F. Y., van der Knaap, M. S., Vermeulen, R. J., Wiltshire, E. J., Fletcher, J. M., Lewis, B., Baynam, G., Ellaway, C., Balasubramaniam, S., Bhattacharya, K., Freckmann, M-L., Arbuckle, S., Rodriguez, M., Taft, R. J., Sadedin, S., Cowley, M. J., Minoche, A. E., Calvo, S. E., Mootha, V. K., Ryan, M. T., Okazaki, Y., Stroud, D. A., Simons, C., Christodoulou, J. & Thorburn, D. R., 15 Jan 2021, In: Med. 2, 1, p. 49-73.e10 35 p.

Research output: Contribution to journal › Article › Research › peer-review

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

SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFI^KO 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

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