Understanding complex I assembly for better diagnosis and future treatment

Formosa, Luke (Primary Chief Investigator (PCI))

Biochemistry & Molecular Biology

Project: Research

Status	Active
Effective start/end date	1/01/22 → 31/12/26

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
Hock, D. H., Caruana, N. J., Semcesen, L. N., Lake, N. J., Formosa, L. E., Amarasekera, S. S. C., Stait, T., Tregoning, S., Frajman, L. E., Bournazos, A. M., Robinson, D. R. L., Ball, M., Reljic, B., Ryder, B., Wallis, M. J., Vasudevan, A., Beck, C., Peters, H., Lee, J. & Tan, N. B. & 18 others, Freckmann, M. L., Karlaftis, V., Attard, C., Monagle, P., Samarasinghe, A., Brown, R., Bi, W., Lek, M., McFarland, R., Taylor, R. W., Ryan, M. T., Cooper, S. T., Stark, Z., Christodoulou, J., Compton, A. G., Thorburn, D. R., Stroud, D. A. & MitoMDT Diagnostic Network for Genomics and Omics, 22 May 2025, In: Genome Medicine. 17, 1, 24 p., 58.
Research output: Contribution to journal › Article › Research › peer-review

Open Access

10 Link opens in a new tab Citations (Scopus)
Loss of endogenous estrogen alters mitochondrial metabolism and muscle clock-related protein Rbm20 in female mdx mice
Timpani, C. A., Debrincat, D., Kourakis, S., Boyer, R., Formosa, L. E., Steele, J. R., Zhang, H., Schittenhelm, R. B., Russell, A. P., Rybalka, E. & Lindsay, A., 15 Jun 2024, In: The FASEB Journal. 38, 11, 19 p., e23718.
Research output: Contribution to journal › Article › Research › peer-review

Open Access

6 Link opens in a new tab Citations (Scopus)
Mitochondrial Complex I Assembly and Implications for Mitochondrial Disease
Formosa, L. E., 2024, The Dynamic Nature of Mitochondria: From Ultrastructure to Health and Disease. Reichert, A. S. (ed.). 1st ed. Boca Raton FL USA: CRC Press, p. 128-148 21 p.
Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other › peer-review

FlowCore (FLOW)
Fryga, A. (Manager)
Faculty of Medicine Nursing and Health Sciences Research Platforms
Facility/equipment: Facility
High-performance Computing (M3/MASSIVE)
Powell, D. (Manager) & Tan, G. (Manager)
Office of the Vice-Provost (Research and Research Infrastructure)
Facility/equipment: Facility
Monash Animal Research Platform (MARP)
Findlay, C. (Manager)
Faculty of Medicine Nursing and Health Sciences Research Platforms
Facility/equipment: Facility

Understanding complex I assembly for better diagnosis and future treatment

Project Details

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Loss of endogenous estrogen alters mitochondrial metabolism and muscle clock-related protein Rbm20 in female mdx mice

Mitochondrial Complex I Assembly and Implications for Mitochondrial Disease

FlowCore (FLOW)

High-performance Computing (M3/MASSIVE)

Monash Animal Research Platform (MARP)

Understanding complex I assembly for better diagnosis and future treatment

Project Details

Research output

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Loss of endogenous estrogen alters mitochondrial metabolism and muscle clock-related protein Rbm20 in female mdx mice

Mitochondrial Complex I Assembly and Implications for Mitochondrial Disease

Equipment

FlowCore (FLOW)

High-performance Computing (M3/MASSIVE)

Monash Animal Research Platform (MARP)