Associate Professor Sandra Cooper

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

Telephone +61 2 9845 1456
Fax +61 2 9845 3078

Website Honours in Medical Sciences at Westmead

Map

Biographical details

I am a neurochemist and cell biologist, with a first class Honours degree in Biochemistry from the University of Otago, New Zealand, and PhD and postdoctoral training in Molecular Pharmacology and Neuroscience at University College London, United Kingdom.

I relocated from London to Sydney in 2000, ignited by a passion to use my basic science skills in neurochemistry to understand the mechanism of disease in patients with neuromuscular disorders – a group of devastating disorders with very few treatment options. I became a postdoctoral protégé of eminent Research Clinician Professor Kathryn North in 2000, and in the unique setting of translational research at Kids Research Institute, I began my own research group in 2005.

Research interests

The INMR studies the causes, consequences and therapies for patients with inherited neuromuscular disorders. Neuromuscular disorders encompass a large group of inherited disorders that cause abnormalities in the structure and function of our skeletal muscle or nerves. These disorders can have devastating consequences for affected children, often resulting in the loss of the ability to walk or perform activities of daily living, and many are life-limiting.

A/Prof Sandra Cooper is Deputy Head of the INMR and leads the 'Dysferlin and Membrane Repair' and 'Neuromuscular Gene Discovery' research groups. TheDysferlin and Membrane Repair team focusses 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.

Over the last three years, the INMR Neuromuscular Gene Discovery team and The Broad Institute at Harvard/MIT have harnessed new technologies in next generation sequencing to launch a Gene Discovery program to identify the genetic changes causing disease for our families. Over the last 15 years, the INMR has assembled a large biospecimen bank of around 2000 patient samples. Thus far, we have sequenced the DNA of 350 patients and family members, identifying a diagnosis for nearly 50% of our previously unsolved families. The Gene Discovery group is highly translational and consists of research clinicians (Geneticists and Neurologists) as well as laboratory neuroscientists and PhD students. Over the next three years, our aim is to use this new era of sequencing technologies to seek a diagnosis for all of our families and find new genes underlying disease.

Teaching and supervision

A/Prof Cooper is a full-time researcher. She holds a strong track record in successful postgraduate student supervision. She is primary supervisor to four full-time PhD students, has supervised three PhD students to timely completion, co-supervised six PhD students over the last 10 yrs and supervised six students from the University of Manheim as part of an international training program.

Each PhD student has authored 3-7 publications in top-ranked journals and awarded prizes at National and International conferences. Two of A/Prof Cooper’s completed students are now undertaking postdoctoral training at Harvard University, one of whom was awarded an NHMRC ECR fellowship on the basis of high impact PhD output. The third completed PhD student has successfully developed the transformative CRISPR gene editing technology in her group.

A/Prof's research programs within the INMR provide an excellent opportunity for PhD training in innovative translational projects using cutting-edge technologies.

Current projects

Project #1: Gene Discovery, Bioinformatics and Diagnosis for patients with Neuromuscular Disorders

Sadly, for many patients with inherited Neuromuscular disorders, the genetic basis of their disease is unknown.

The INMR is working with the Broad Institute at MIT/Harvard to harness the latest technologies in next generation sequencing to identify the genetic changes causing disease for our families.

This project will involve working with our clinical team at the Children’s Hospital at Westmead, bioinformatics training and teamwork with our team in MIT/Harvard, follow-up biochemical analyses of patient muscle samples in the lab, as well as tissue culture experiments to study how mutations we identify affects how that protein behaves in a muscle cell.

Project #2: Understanding the molecular steps a cell takes to survive a membrane injury.

The most common form of muscular dystrophy in children is due to fragile muscle membranes that tear easily during normal exercise, resulting in muscle degeneration and weakness. A possible solution may lie in another rare form of muscular dystrophy, where the strength and structure of the membrane is normal, but membrane repair is defective. This has provided a key to begin to unlock how membrane repair works and we are generating two new mouse models to study how membrane repair works.

This project will combine powerful microscopy techniques and cell biology, to study the precise cellular mechanism by which cells repair an injury to their membrane. We have many different assay to create membrane injury to cells and organs (we shoot muscle cells, we give hearts a heart attack, we use bacterial toxins to perforate cells) and we are studying exactly how cells go about repairing these injuries. Thus, our research is not only relevant to muscular disease, and has wider implications to other pathologies cause by membrane injury such as stroke, surgery, heart attack and infection. Our eventual goal is todevelop new treatments that improve membrane repair.

Project #3: Developing a biosensor of membrane injury to test new therapies for membrane repair.

Membrane repair is an intrinsic cell survival mechanism of all eukaryotic cells, and is clearly demonstrated by the ready survival of occytes injected for in vitro fertilization. A rare form of muscular dystrophy has identified a key player in membrane repair – the vesicle fusion protein dysferlin. Dysferlin plays a vital role in muscle membrane repair, a process that uses vesicle fusion to ‘patch’ broken membranes.

We discovered that during a membrane injury, dysferlin is cleaved into two pieces by calcium-activated proteases called calpains. This only happens when the membrane of a cell is ruptured. Thus, our discovery provides a unique opportunity to create a specialized fluorescent or luminescent biosensor to detect membrane injury. We will construct a reporter that fluoresces or luminesces only when calpain cleaves dysferlin at the specific site we have identified. Such a biosensor could be used in high throughput screening assays to test therapeutic reagents that improve membrane repair. Additionally, an effective injury biosensor could be used to create a transgenic animal to act as a ‘membrane injury reporter’, to provide a measurement for how much membrane injury is occurring with development of a muscular dystrophy, or to assess whether a new treatment is improving the amount of muscle cell damage.

Project #4: To study disease mechanism a new form of myopathy using CRISPR/Cas9-mediated fluorescent labelling, live-cell microscopy and protein-interaction studies.

We have identified a new gene that causes an early–onset myopathy in children. The gene is an oxidoreductase, and highlights altered redox as a new pathway in the myopathies, with many similarities to features of neurodegenerative disorders.It is rare to find something utterly uncharacterised in 2016, and this gene is essential for life. We want to study how this protein responds to oxidative stress, and find which substrates it regulates the redox state of that cells cannot live without.

Selected grants

2016

  • Barocycler Pressure Cycling Technology; Robinson P, Reddel R, Byrne J, Cooper S, deFazio A; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Dysferlin and the emergency vesicle fusion of membrane repair; Cooper S; National Health and Medical Research Council (NHMRC)/Project Grants.

2015

  • Identifying disease genes for neurogenetic disorders using next generation sequencing; Cooper S, Clarke N; National Health and Medical Research Council (NHMRC)/Project Grants.

2013

  • Dysferlin coordinates membrane repair for skeletal and cardiac injury; Cooper S; National Health and Medical Research Council (NHMRC)/Career Development Fellowships.
  • Dysferlinopathy: A genetic disease sheds light on membrane repair for muscle and cardiac injury; Cooper S, North K, Egan J; National Health and Medical Research Council (NHMRC)/Project Grants.

2012

  • Gene Discovery and Functional Studies to Reveal Mechanisms Underlying Mitochondrial Respiratory Chain Disorders.; Christodoulou J, Cooper S; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • Improving the genetic diagnosis of neuromuscular diseases; Dale R, Christodoulou J, Brilot-Turville F, Yang N, Clarke N, Cooper S; Rebecca L Cooper Medical Research Foundation/Equipment Grant.
  • The BD Influx High Speed Cell Sorter; Cunningham A, George J, Rizos H, Clarke C, Reddel R, Kefford R, North K, Stewart G, Jones C, Tam P, Alexander S, Gottlieb D, Bradstock K, Bryan T, Booth D, Bendall L, Brilot-Turville F, Hebbard L, Cooper S, Wang Y, Wang X; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2009

  • The role of dysferlin in muscular dystrophy and membrane repair; Cooper S, North K; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications

Download citations: PDF RTF Endnote

Book Chapters

  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012). Diagnosis of the Muscular Dystrophies. In Madhuri Hegde and Arunkanth Ankala (Eds.), Muscular Dystrophy, (pp. 261-288). Rijeka, Croatia: InTech Publishers.
  • North, K., Cooper, S. (2006). Protein diagnosis in the dystrophinopathies. In Jeffrey S. Chamberlain, Thomas A. Rando (Eds.), Duchenne muscular dystrophy: advances in Therapeutics, (pp. 105-118). United States of America: Taylor & Francis.

Journals

  • Redpath, G., Sophocleous, R., Turnbull, L., Whitchurch, C., Cooper, S. (2016). Ferlins show tissue-specific expression and segregate as plasma membrane/late endosomal or trans-olgi/recycling ferlins. Traffic (Malden), 17(3), 245-266. [More Information]
  • Lemckert, F., Bournazos, A., Eckert, D., Kenzler, M., Hawkes, J., Butler, T., Ceely, B., North, K., Winlaw, D., Egan, J., Cooper, S. (2016). Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. Cardiovascular Research, 110(2), 178-187. [More Information]
  • Cooper, S., Head, S. (2015). Membrane Injury and Repair in the Muscular Dystrophies. Neuroscientist, 21(6), 653-668. [More Information]
  • Cooper, S., McNeil, P. (2015). Membrane Repair: Mechanisms and Pathophysiology. Physiological Reviews, 95(4), 1205-1240. [More Information]
  • Yuen, M., Cooper, S., Marston, S., Nowak, K., McNamara, E., Mokbel, N., Ilkovski, B., Ravenscroft, G., Rendu, J., de Winter, J., North, K., Clarke, N., et al (2015). Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics, 24(22), 6278-9622. [More Information]
  • Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]
  • Ghaoui, R., Cooper, S., Lek, M., Jones, K., Corbett, A., Reddel, S., Needham, M., Liang, C., Waddell, L., Nicholson, G., O'Grady, G., Kaur, S., Sue, C., Clarke, N., et al (2015). Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology, 72(12), 1424-1432. [More Information]
  • Sztal, T., Zhao, M., Williams, C., Oorschot, V., Parslow, A., Giousoh, A., Yuen, M., Hall, T., Costin, A., Ramm, G., Cooper, S., et al (2015). Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathologica, 130(3), 389-406. [More Information]
  • Fuson, K., Rice, A., Mahling, R., Snow, A., Nayak, K., Shanbhogue, P., Meyer, A., Redpath, G., Hinderliter, A., Cooper, S., et al (2014). Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair. Structure, 22(1), 104-115. [More Information]
  • Redpath, G., Woolger, N., Piper, A., Lemckert, F., Lek, A., Greer, P., North, K., Cooper, S. (2014). Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair. Molecular Biology of the Cell, 25(19), 3037-3048. [More Information]
  • Miller, D., Menezes, M., Simons, C., Riley, L., Cooper, S., Grimmond, S., Thorburn, D., Christodoulou, J., Taft, R. (2014). Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PloS One, 9(8), 1-6. [More Information]
  • 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. [More Information]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Oiger de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Cooper, S., Christodoulou, J., et al (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. [More Information]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]
  • Lek, A., Evesson, F., Sutton, B., North, K., Cooper, S. (2012). Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. Traffic (Malden), 13(2), 185-194. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., North, K., Cooper, S., et al (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. [More Information]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Cooper, S., North, K., et al (2011). Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies. Neuromuscular Disorders, 21(3), 194-203. [More Information]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011). Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle and Nerve, 44(2), 280-282. [More Information]
  • 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), 429-441. [More Information]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giege, R., Christodoulou, J., et al (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), 52-59. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., North, K., et al (2010). Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. Human Mutation, 31(7), E1544-E1550. [More Information]
  • Evesson, F., Peat, R., Lek, A., Brilot-Turville, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010). Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway. Journal of Biological Chemistry, 285(37), 28529-28539. [More Information]
  • 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. [More Information]
  • 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), 235-246. [More Information]
  • 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), 867-877. [More Information]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., MacArthur, D., North, K., et al (2008). Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18(1), 34-44. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (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), 714-724. [More Information]
  • Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007). Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular Disorders, 17(4), 276-284. [More Information]
  • Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007). Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology, 62(6), 597-608. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007). Mechanisms underlying intranuclear rod formation. Brain, 130(12), 3275-3284. [More Information]
  • Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007). The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology, 61(6), 552-561. [More Information]
  • Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006). Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics, 15(1), 129-142.
  • Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006). Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders, 16(Sup. 1), S60-S61.
  • Corbett, M., Akkari, A., Domazetovska, A., Cooper, S., North, K., Laing, N., Gunning, P., Hardeman, E. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Annals of Neurology, 57(1), 42-49. [More Information]
  • Ilkovski, B., Clement, S., Sewry, C., North, K., Cooper, S. (2005). Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders, 15(12), 829-835. [More Information]
  • Compton, A., Cooper, S., Hill, P., Yang, N., Froehner, S., North, K. (2005). The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology, 64(4), 350-361. [More Information]
  • Allen, D., Hardeman, E., North, K., Alexander, I., Cooper, S., Maxwell, A., Kizana, E., Ghoddusi, M. (2004). C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression. Cell Motility and the Cytoskeleton, 58(3), 200-211. [More Information]
  • North, K., Nowak, K., Cooper, S., Maxwell, A., Clement, S., Davies, K., Laing, N., Ilkovski, B., Domazetovska, A. (2004). Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms. Human Molecular Genetics, 13(16), 1727-1743.
  • North, K., Winlaw, D., Cooper, S., Au, C., Yang, N., Lo, H., Compton, A., Wintour, M. (2004). Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle. Journal of Molecular and Cellular Cardiology, 36(5), 655-662.
  • Cooper, S., Lo, S., North, K. (2003). Single section Western blot. Improving the molecular diagnosis of the muscular dystrophies. Neurology, 61(1), 93-97.

2016

  • Redpath, G., Sophocleous, R., Turnbull, L., Whitchurch, C., Cooper, S. (2016). Ferlins show tissue-specific expression and segregate as plasma membrane/late endosomal or trans-olgi/recycling ferlins. Traffic (Malden), 17(3), 245-266. [More Information]
  • Lemckert, F., Bournazos, A., Eckert, D., Kenzler, M., Hawkes, J., Butler, T., Ceely, B., North, K., Winlaw, D., Egan, J., Cooper, S. (2016). Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor. Cardiovascular Research, 110(2), 178-187. [More Information]

2015

  • Cooper, S., Head, S. (2015). Membrane Injury and Repair in the Muscular Dystrophies. Neuroscientist, 21(6), 653-668. [More Information]
  • Cooper, S., McNeil, P. (2015). Membrane Repair: Mechanisms and Pathophysiology. Physiological Reviews, 95(4), 1205-1240. [More Information]
  • Yuen, M., Cooper, S., Marston, S., Nowak, K., McNamara, E., Mokbel, N., Ilkovski, B., Ravenscroft, G., Rendu, J., de Winter, J., North, K., Clarke, N., et al (2015). Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. Human Molecular Genetics, 24(22), 6278-9622. [More Information]
  • Menezes, M., Guo, Y., Zhang, J., Riley, L., Cooper, S., Thorburn, D., Li, J., Dong, D., Li, Z., Glessner, J., Davis, R., Sue, C., Alexander, S., Christodoulou, J., et al (2015). Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. Human Molecular Genetics, 24(8), 2297-2307. [More Information]
  • Ghaoui, R., Cooper, S., Lek, M., Jones, K., Corbett, A., Reddel, S., Needham, M., Liang, C., Waddell, L., Nicholson, G., O'Grady, G., Kaur, S., Sue, C., Clarke, N., et al (2015). Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. JAMA Neurology, 72(12), 1424-1432. [More Information]
  • Sztal, T., Zhao, M., Williams, C., Oorschot, V., Parslow, A., Giousoh, A., Yuen, M., Hall, T., Costin, A., Ramm, G., Cooper, S., et al (2015). Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathologica, 130(3), 389-406. [More Information]

2014

  • Fuson, K., Rice, A., Mahling, R., Snow, A., Nayak, K., Shanbhogue, P., Meyer, A., Redpath, G., Hinderliter, A., Cooper, S., et al (2014). Alternate Splicing of Dysferlin C2A Confers Ca(2+)-Dependent and Ca(2+)-Independent Binding for Membrane Repair. Structure, 22(1), 104-115. [More Information]
  • Redpath, G., Woolger, N., Piper, A., Lemckert, F., Lek, A., Greer, P., North, K., Cooper, S. (2014). Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair. Molecular Biology of the Cell, 25(19), 3037-3048. [More Information]
  • Miller, D., Menezes, M., Simons, C., Riley, L., Cooper, S., Grimmond, S., Thorburn, D., Christodoulou, J., Taft, R. (2014). Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PloS One, 9(8), 1-6. [More Information]

2013

  • 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. [More Information]
  • Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Oiger de Baulny, H., Su, C., Gilleron, M., Lombes, A., Abida, H., Cooper, S., Christodoulou, J., et al (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. [More Information]
  • Riley, L., Menezes, M., Rudinger-Thirion, J., Duff, R., de Lonlay, P., Rotig, A., Tchan, M., Davis, M., Cooper, S., Christodoulou, J. (2013). Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal of Rare Diseases, 8(1), 1-11. [More Information]

2012

  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012). Diagnosis of the Muscular Dystrophies. In Madhuri Hegde and Arunkanth Ankala (Eds.), Muscular Dystrophy, (pp. 261-288). Rijeka, Croatia: InTech Publishers.
  • Lek, A., Evesson, F., Sutton, B., North, K., Cooper, S. (2012). Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. Traffic (Malden), 13(2), 185-194. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]

2011

  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., North, K., Cooper, S., et al (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. [More Information]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Cooper, S., North, K., et al (2011). Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies. Neuromuscular Disorders, 21(3), 194-203. [More Information]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011). Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle and Nerve, 44(2), 280-282. [More Information]

2010

  • 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), 429-441. [More Information]
  • Riley, L., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S., Thorburn, D., Ryan, M., Giege, R., Christodoulou, J., et al (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), 52-59. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., North, K., et al (2010). Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. Human Mutation, 31(7), E1544-E1550. [More Information]
  • Evesson, F., Peat, R., Lek, A., Brilot-Turville, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010). Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway. Journal of Biological Chemistry, 285(37), 28529-28539. [More Information]

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. [More Information]

2008

  • 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), 235-246. [More Information]
  • 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), 867-877. [More Information]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., MacArthur, D., North, K., et al (2008). Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18(1), 34-44. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (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), 714-724. [More Information]

2007

  • Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007). Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular Disorders, 17(4), 276-284. [More Information]
  • Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007). Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology, 62(6), 597-608. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007). Mechanisms underlying intranuclear rod formation. Brain, 130(12), 3275-3284. [More Information]
  • Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007). The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology, 61(6), 552-561. [More Information]

2006

  • Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006). Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics, 15(1), 129-142.
  • North, K., Cooper, S. (2006). Protein diagnosis in the dystrophinopathies. In Jeffrey S. Chamberlain, Thomas A. Rando (Eds.), Duchenne muscular dystrophy: advances in Therapeutics, (pp. 105-118). United States of America: Taylor & Francis.
  • Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006). Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders, 16(Sup. 1), S60-S61.

2005

  • Corbett, M., Akkari, A., Domazetovska, A., Cooper, S., North, K., Laing, N., Gunning, P., Hardeman, E. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Annals of Neurology, 57(1), 42-49. [More Information]
  • Ilkovski, B., Clement, S., Sewry, C., North, K., Cooper, S. (2005). Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders, 15(12), 829-835. [More Information]
  • Compton, A., Cooper, S., Hill, P., Yang, N., Froehner, S., North, K. (2005). The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology, 64(4), 350-361. [More Information]

2004

  • Allen, D., Hardeman, E., North, K., Alexander, I., Cooper, S., Maxwell, A., Kizana, E., Ghoddusi, M. (2004). C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression. Cell Motility and the Cytoskeleton, 58(3), 200-211. [More Information]
  • North, K., Nowak, K., Cooper, S., Maxwell, A., Clement, S., Davies, K., Laing, N., Ilkovski, B., Domazetovska, A. (2004). Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms. Human Molecular Genetics, 13(16), 1727-1743.
  • North, K., Winlaw, D., Cooper, S., Au, C., Yang, N., Lo, H., Compton, A., Wintour, M. (2004). Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle. Journal of Molecular and Cellular Cardiology, 36(5), 655-662.

2003

  • Cooper, S., Lo, S., North, K. (2003). Single section Western blot. Improving the molecular diagnosis of the muscular dystrophies. Neurology, 61(1), 93-97.

To update your profile click here. For support on your academic profile contact .