Associate Professor Sandra Cooper

NHMRC Career Development Fellow (Level D)
Paediatrics & Child Health, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3101
F: +61 2 9845 3078
E:

Research interests

Dr Sandra Cooper leads the Dysferlin and Membrane Repair team within the Institute for Neuoscience and Muscle Research and the Children's Hospital at Westmead. Dr Cooper's main focus is muscular dystrophy; focussing on a new mechanistic pathway in this group of disorders, defective membrane repair. The study of these rare disorders is beginning to lend vital information to what is a basic survival mechanism for cells, relevant to many tissues and pathologies linked with membrane damage (surgery, injury, heart attack, stroke). Her research is closely linked with patients; utilising real-life patient mutations as a key to unlock normal functions through study of disease-causing abnormal behaviour. Her research utilises patient tissue and cell lines, cell biology, physiology and biochemistry.

Current national competitive grants*

2012

Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.
Christodoulou J, Cooper S
NHMRC Project Grants ($368,510 over 3 years)

* Grants administered through the University of Sydney

Publications

2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008

2014

   
  • Fuson, K., Rice, A., Mahling, R., Snow, A., Nayak, K., Shanbhogue, P., Meyer, A., Redpath, G., Hinderliter, A., Cooper, S., Sutton, R. (2014), Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair. Structure. 22(1), 104-115. [Abstract]

2013

   
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Ogier de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Tzagoloff, A., Riley, L., Cooper, S., Mina, K., Sivadorai, P., Davis, M., Allcock, R., Kresoje, N., Laing, N., Thorburn, D., Slama, A., Christodoulou, J., Rustin, P. (2013), Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. American Journal of Human Genetics. 93(2), 384-389. [Abstract]
  • Lek, A., Evesson, F., Lemckert, F., Redpath, G., Lueders, A., Turnbull, L., Whitchurch, C., North, K., Cooper, S. (2013), Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair. The Journal of Neuroscience. 33(12), 5085-5094. [Abstract]

2012

   
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., Harbord, M., North, K., Clarke, N. (2012), Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 78(16), 1258-1263. [Abstract]
  • Lek, A., Evesson, F., Sutton, R., North, K., Cooper, S. (2012), Ferlins; regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic. 13(2), 185-194. [Abstract]
  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012), Diagnosis of the Muscular Dystrophies. In: Muscular Dystrophy. (pp.261-288).Croatia: InTech.

2011

   
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011), Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle & Nerve. 44(2), 280-282. [Abstract]
  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., Landstrom, A., Ackerman, M., Weisleder, N., Ma, J., North, K., Cooper, S. (2011), Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch. Journal of Neuropathology and Experimental Neurology. 70(4), 302-313. [Abstract]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Tozzi, G., Tasca, G., Cooper, S., Straub, V., North, K. (2011), Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular disorders : NMD. 21(3), 194-203. [Abstract]

2010

   
  • Evesson, F., Peat, R., Lek, A., Brilot, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010), Reduced plasma membrane expression of dysferlin mutants is due to accelerated endocytosis via a syntaxin-4 associated pathway. The Journal of biological chemistry. 285(37), 28529-39. [Abstract]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., GiegĂ©, R., Bahlo, M., Christodoulou, J. (2010), Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome. American journal of human genetics. 87(1), 52-9. [Abstract]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., Guglieri, M., King, M., Farrell, M., Marty, I., Lunardi, J., Monnier, N., North, K. (2010), Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human mutation. 31(7), E1544-50. [Abstract]
  • Vandebrouck, A., Domazetovska, A., Mokbel, N., Cooper, S., Ilkovski, B., North, K. (2010), In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies. Journal of neuropathology and experimental neurology. 69(5), 429-41. [Abstract]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010), Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology. 10, 231. [Abstract]

2009

   
  • Egan, J., Butler, T., Cole, A., Abraham, S., Murala, J., Baines, D., Street, N., Thompson, L., Biecker, O., Dittmer, J., Cooper, S., Au, C., North, K., Winlaw, D. (2009), Myocardial membrane injury in pediatric cardiac surgery: An animal model. The Journal of Thoracic and Cardiovascular Surgery. 137(5), 1154-1162. [Abstract]

2008

   
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., Froehner, S., North, K. (2008), Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American journal of human genetics. 83(6), 714-24. [Abstract]
  • Au, C., Butler, T., Egan, J., Cooper, S., Lo, H., Compton, A., North, K., Winlaw, D. (2008), Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta neuropathologica. 116(3), 235-46. [Abstract]
  • Ilkovski, B., Mokbel, N., Lewis, R., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V., North, K., Cooper, S. (2008), Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy. Journal of neuropathology and experimental neurology. 67(9), 867-77. [Abstract]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., Macarthur, D., Yang, N., Reardon, K., North, K. (2008), Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular disorders : NMD. 18(0), 34-44. [Abstract]