Projects per year
Personal profile
Biography
I am leader of the neuropathology and cell biology team, part of the large MND gene discovery program at the Centre for MND Research. I Received my PhD from the University of Queensland in Molecular and Cellular Pharmacology and undertook my first postdoc training at the ANZAC Research Institute, University of Sydney in Prof Ian Blair's group. There I was awarded a Bill Gole Fellowship from MND Research Australia to unravel the cell biology of MND. In 2010, I relocated to Macquarie University with Prof Ian Blair's group as a founding member of the centre for MND Research. I established the neuropathology and cell biology program where I investigated the molecular and cellular changes associated with novel and known MND proteins in patient-derived cells and post-mortem tissues. This work has led to several high impact publications and grants that can be found under the 'Research outputs' section.
Research interests
Gene mutations are the only proven cause of MND and these mutations provide us with the best tools to unravel the fundamental biology of disease. My team has extensive experience in idenifying the functional and pathological changes associated with novel and known MND-linked genes, including TARDBP, OPTN, UNQLN2, PFN1, repeat expansions in C9orf72, CCNF, CHCHD10 and hnRNPs. My program, part of the MND Research Centre's ambitious gene discovery pipeline, validate causal MND genes using pathological and cell biology strategies. The following projects are available in my team: 1) Functional validation of aberrant repeat expansion in ATXN2 and other novel MND candidate genes in an Australian MND family; 2) Neuropathological and analysis of novel and known MND proteins; 3) Targeting mitochondria as a novel therapeutic strategy for MND.
Teaching
I am the co-convenor of MEDI2301-Cellular and Molecular Neuroscience. The goal of this unit is to deliver general and specific aspects of the morphogenesis and function of neurons and glial cells and the dysfunction of the nervous system after injury and in disease. I am also a guest lecture of an equivalent third-year biochemistry and cell biolog subject MEDI3200 -Translational Biology and Genomics (formerly known as MEDI304-Advanced Clinical Science) which is a compulsory unit in the Bachelor of Clinical Science degree.
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Collaborations and top research areas from the last five years
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FightMND 24: Developing an extracellular vesicle-based nanoplatform for precision targeting of intraneuronal TDP-43
Yang, S. (Primary Chief Investigator), Wang, Y. (Co-Investigator), Luu, L. (Co-Investigator) & Chung, R. (Associate Investigator)
30/04/25 → 29/04/27
Project: Research
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Generation of a stem cell model for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes.
Yang, S. (Primary Chief Investigator) & Blair, I. (Associate Investigator)
1/01/17 → …
Project: Research
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Advanced protein quantification capability
Walker, A. K. (Primary Chief Investigator), Lee, A. (Chief Investigator), Connor, M. (Chief Investigator), Atkin, J. (Chief Investigator), Lim, E. (Chief Investigator), Baker, M. S. (Chief Investigator), Rizos, H. (Chief Investigator), Phillips, J. K. (Chief Investigator), Yang, S. (Chief Investigator) & Blair, I. (Chief Investigator)
1/01/17 → …
Project: Research
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MNDRA24: Investigating the role of extracellular vesicles (EVs) membrane proteome in MND pathogenesis and clinical application
Wang, Y. (Primary Chief Investigator), Yang, S. (Chief Investigator), Lee, A. (Chief Investigator), Fath, T. (Chief Investigator) & Ooi, L. (Chief Investigator)
24/06/24 → 23/06/25
Project: Research
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MNDRA23: Characterising CHCHD10-induced TDP-43 mitochondria entry in MND
Yang, S. (Primary Chief Investigator), Lee, A. (Chief Investigator), Zou, A. (Chief Investigator) & Blair, I. (Chief Investigator)
30/06/23 → 29/06/24
Project: Research
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Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis
Wu, S. S. L., McCann, E. P., Chan Moi Fat, S., Grima, N., Henden, L., Fearnley, L. G., Chiu, P., Williams, K. L., Rowe, D. B., Nicholson, G. A., Kiernan, M. C., Blair, I. P., Yang, S. & Fifita, J. A., Mar 2026, In: Brain Disorders. 21, p. 1-9 9 p., 100301.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
C9orf72-associated dipeptide repeat expansions perturb ER-golgi vesicular trafficking, inducing golgi fragmentation and ER stress, in ALS/FTD
Sultana, J., Ragagnin, A. M. G., Parakh, S., Saravanabavan, S., Soo, K. Y., Vidal, M., Jagaraj, C. J., Ding, K., Wu, S., Shadfar, S., Don, E. K., Deva, A., Nicholson, G., Rowe, D. B., Blair, I., Yang, S. & Atkin, J. D., Dec 2024, In: Molecular Neurobiology. 61, 12, p. 10318-10338 21 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)28 Downloads (Pure) -
Cyclin F can alter the turnover of TDP-43
Rayner, S. L., Hogan, A., Davidson, J. M., Chapman, T., Cheng, F., Luu, L., Wu, S., Zhang, S., Yang, S., Blair, I., Morsch, M., Chung, R. & Lee, A., Mar 2024, In: Neurobiology of Disease. 192, p. 1-10 10 p., 106421.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)82 Downloads (Pure) -
Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia
Nementzik, L. R., Thumbadoo, K. M., Murray, H. C., Gordon, D., Yang, S., Blair, I. P., Turner, C., Faull, R. L. M., Curtis, M. A., McLean, C., Nicholson, G. A., Swanson, M. E. V. & Scotter, E. L., May 2024, In: Brain Pathology. 34, 3, p. 1-14 14 p., e13230.Research output: Contribution to journal › Article › peer-review
Open AccessFile6 Citations (Scopus)29 Downloads (Pure) -
Protein disulfide isomerase endoplasmic reticulum protein 57 (ERp57) is protective against ALS-associated mutant TDP-43 in neuronal cells
Parakh, S., Perri, E. R., Vidal, M., Takalloo, Z., Jagaraj, C. J., Mehta, P., Yang, S., Thomas, C. J., Blair, I. P., Hong, Y. & Atkin, J. D., 11 Jun 2024, In: NeuroMolecular Medicine. 26, 1, p. 1-15 15 p., 23.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)53 Downloads (Pure)