Personalised Medicine for Mitochondrial Disorders: Targeting Pathogenic Mechanisms

Project: Research

Status	Finished
Effective start/end date	1/01/16 → 31/12/20

National Health and Medical Research Council (NHMRC) (Australia): A$1,770,213.00

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

20 Citations (Scopus)
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome
Kang, Y., Anderson, A. J., Jackson, T. D., Palmer, C. S., De Souza, D. P., Fujihara, K. M., Stait, T., Frazier, A. E., Clemons, N. J., Tull, D., Thorburn, D. R., McConville, M. J., Ryan, M. T., Stroud, D. A. & Stojanovski, D., 4 Nov 2019, In: eLife. 8, 32 p., e48828.
Research output: Contribution to journal › Article › Research › peer-review

Open Access
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35 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 & Developmental Biology. 76, p. 154-162 9 p.
Research output: Contribution to journal › Article › Other › peer-review

140 Citations (Scopus)

Project Details