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Energy turnover in mammalian skeletal muscle in contractions mimicking locomotion: effects of stimulus pattern on work, impulse and energetic cost and efficiency (2019)
Journal Article
Curtin, N. A., Woledge, R. C., West, T. G., Goodwin, D., Piercy, R. J., & Wilson, A. M. (2019). Energy turnover in mammalian skeletal muscle in contractions mimicking locomotion: effects of stimulus pattern on work, impulse and energetic cost and efficiency. Journal of Experimental Biology, 222, https://doi.org/10.1242/jeb.203877

Active muscle performs various mechanical functions during locomotion: work output during shortening, work absorption when resisting (but not preventing) lengthening, and impulse (force–time integral) whenever there is active force. The energetic cos... Read More about Energy turnover in mammalian skeletal muscle in contractions mimicking locomotion: effects of stimulus pattern on work, impulse and energetic cost and efficiency.

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy (2018)
Journal Article
Amoasii, L., Hildyard, J. C. W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., Harron, R., Stathopoulou, T.-R., Massey, C. A., Shelton, J. M., Bassel-Duby, R., Piercy, R. J., & Olson, E. N. (2018). Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science, 362(6410), 86-91. https://doi.org/10.1126/science.aau1549

Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD g... Read More about Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy.

A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase (2017)
Journal Article
Maile, C. A., Hingst, J. R., Mahalingan, K. K., O'Reilly, A. O., Cleasby, M. E., Mickelson, J. R., McCue, M. E., Anderson, S. M., Hurley, T. D., Wojtaszewski, J. F., & Piercy, R. J. (2017). A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. https://doi.org/10.1016/j.bbagen.2016.08.021

Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes (2014)
Journal Article
Fernandez-Fuente, M., Terracciano, C. M., Martin-Duque, P., Brown, S. C., Vassaux, G., & Piercy, R. J. (2014). Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes. PLoS ONE, 9(8), e105971. https://doi.org/10.1371/journal.pone.0105971

Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malig... Read More about Calcium Homeostasis in Myogenic Differentiation Factor 1 (MyoD)-Transformed, Virally-Transduced, Skin-Derived Equine Myotubes.

Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes (2014)
Journal Article
Fernandez-Fuente, M., Martin-Duque, P., Vassaux, G., Brown, S. C., Muntoni, F., Terracciano, C. M., & Piercy, R. J. (2014). Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes. Neuromuscular Disorders, 24(3), 250-258. https://doi.org/10.1016/j.nmd.2013.11.009

Several human and animal myopathies, such as malignant hyperthermia (MH), central core disease and equine recurrent exertional rhabdomyolysis (RER) are confirmed or thought to be associated with dysfunction of skeletal muscle calcium regulation. For... Read More about Adenovirus-mediated expression of Myogenic Differentiation Factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes.

Investigating the pathology of Emery-Dreifuss muscular dystrophy
Journal Article
Brown, S. C., Piercy, R. J., Muntoni, F., & Sewry, C. A. Investigating the pathology of Emery-Dreifuss muscular dystrophy. Biochemical Society Transactions, 36(Pt 6), 1335-1338. https://doi.org/10.1042/bst0361335

EDMD (Emery-Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2-q21.3 of emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linke... Read More about Investigating the pathology of Emery-Dreifuss muscular dystrophy.

Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1
Journal Article
Fernandez-Fuente, M., Ames, E. G., Wagner, M. L., Zhou, H., Strom, M., Zammit, P. S., Mickelson, J. R., Muntoni, F., Brown, S. C., & Piercy, R. J. Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. American Journal of Veterinary Research, 69(12), 1637-1645. https://doi.org/10.2460/ajvr.69.12.1637

Objective - To develop a reliable method for converting cultured equine skin-derived fibroblasts into muscle cells. Sample Population - Equine skin-derived fibroblasts. Procedures - The equine myogenic differentiation 1 (eqMyoD) genomic sequence was... Read More about Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1.

Novel diabetes mellitus treatment: mature canine insulin production by canine striated muscle through gene therapy
Journal Article
Niessen, S. J. M., Fernandez-Fuente, M., Mahmoud, A., Campbell, S. C., Aldibbiat, A., Huggins, C., Brown, A. E., Holder, A. L., Piercy, R. J., Catchpole, B., Shaw, J. A., & Church, D. B. Novel diabetes mellitus treatment: mature canine insulin production by canine striated muscle through gene therapy. Domestic Animal Endocrinology, 43(1), 16-25. https://doi.org/10.1016/j.domaniend.2012.01.006

Epidemiology of Exertional Rhabdomyolysis Susceptibility in Standardbred Horses Reveals Associated Risk Factors and Underlying Enhanced Performance
Journal Article
Isgren, C. M., Upjohn, M. J., Fernandez-Fuente, M., Massey, C. A., Pollott, G. E., Verheyen, K. L. P., & Piercy, R. J. Epidemiology of Exertional Rhabdomyolysis Susceptibility in Standardbred Horses Reveals Associated Risk Factors and Underlying Enhanced Performance. PLoS ONE, 5(7), e11594. https://doi.org/10.1371/journal.pone.0011594

Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds
Journal Article
McCue, M. E., Anderson, S. M., Valberg, S. J., Piercy, R. J., Barakzai, S. Z., Binns, M. M., Distl, O., Penedo, M. C. T., Wagner, M. L., & Mickelson, J. R. Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds. Animal Genetics, 41(Supp 2), 145-149. https://doi.org/10.1111/j.1365-2052.2010.02124.x

A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping
Journal Article
Walmsley, G. L., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, M. M., Nagel, N., Holder, A. L., Stanley, R., Chandler, K. E., Marks, S. L., Muntoni, F., Shelton, G. D., & Piercy, R. J. A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping. PLoS ONE, 5(1), e8647. https://doi.org/10.1371/journal.pone.0008647