Building and maintaining complex I of the mitochondrial respiratory chain.

Project: Research

Status	Finished
Effective start/end date	1/01/14 → 31/12/16

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

5 Citations (Scopus)
A novel isoform of the human mitochondrial complex I subunit NDUFV3
Dibley, M. G., Ryan, M. T. & Stroud, D. A., 1 Jan 2017, In: FEBS Letters. 591, 1, p. 109-117 9 p.
Research output: Contribution to journal › Letter › Research › peer-review

16 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
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227 Citations (Scopus)

Project Details