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Single-transcript multiplex in situ hybridisation reveals unique patterns of dystrophin isoform expression in the developing mammalian embryo (2020)
Journal Article
Hildyard, J. C. W., Crawford, A. H., Rawson, F., Riddell, D. O., Harron, R. C. M., & Piercy, R. J. (2020). Single-transcript multiplex in situ hybridisation reveals unique patterns of dystrophin isoform expression in the developing mammalian embryo. Wellcome Open Research, 5, 76. https://doi.org/10.12688/wellcomeopenres.15762.2

Background: The dystrophin gene has multiple isoforms: full-length dystrophin (dp427) is principally known for its expression in skeletal and cardiac muscle, but is also expressed in the brain, and several internal promoters give rise to shorter, N-t... Read More about Single-transcript multiplex in situ hybridisation reveals unique patterns of dystrophin isoform expression in the developing mammalian embryo.

Detection of hypoglycin A and MCPA‐carnitine in equine serum and muscle tissue: optimisation and validation of a LC‐MS based method without derivatisation (2020)
Journal Article
González Medina, S., Hyde, C., Lovera, I., & Piercy, R. J. (2020). Detection of hypoglycin A and MCPA‐carnitine in equine serum and muscle tissue: optimisation and validation of a LC‐MS based method without derivatisation. Equine Veterinary Journal, https://doi.org/10.1111/evj.13303

Measurement of hypoglycin A (HGA) and its toxic metabolite, methylenecyclopropylacetic acid (MCPA), in equine serum confirms a diagnosis of atypical myopathy (AM), a pasture‐associated toxic rhabdomyolysis with high mortality linked to the ingestion... Read More about Detection of hypoglycin A and MCPA‐carnitine in equine serum and muscle tissue: optimisation and validation of a LC‐MS based method without derivatisation.

Species-specific consequences of an E40K missense mutation in superoxide dismutase 1 (SOD1) (2019)
Journal Article
Draper, A. C. E., Wilson, Z., Maile, C. A., Faccenda, D., Campanella, M., & Piercy, R. J. (2019). Species-specific consequences of an E40K missense mutation in superoxide dismutase 1 (SOD1). FASEB Journal, https://doi.org/10.1096/fj.201901455R

A glutamic acid to lysine (E40K) residue substitution in superoxide dismutase 1 (SOD1) is associated with canine degenerative myelopathy: the only naturally occurring large animal model of amyotrophic lateral sclerosis (ALS). The E40 residue is highl... Read More about Species-specific consequences of an E40K missense mutation in superoxide dismutase 1 (SOD1).

Assessing pathological changes within the nucleus ambiguus of horses with Recurrent Laryngeal Neuropathy: an extreme, length-dependent axonopathy (2019)
Journal Article
Draper, A. C. E., Cahalan, S. D., Goodwin, D., Perkins, J. D. M., & Piercy, R. J. (2019). Assessing pathological changes within the nucleus ambiguus of horses with Recurrent Laryngeal Neuropathy: an extreme, length-dependent axonopathy. Muscle & Nerve, https://doi.org/10.1002/mus.26699

Equine recurrent laryngeal neuropathy (RLN) is a naturally occurring model of length‐dependent axonopathy characterised by asymmetrical degeneration of recurrent laryngeal nerve axons (RLn). Distal RLn degeneration is marked, however it is unclear wh... Read More about Assessing pathological changes within the nucleus ambiguus of horses with Recurrent Laryngeal Neuropathy: an extreme, length-dependent axonopathy.

Ex vivo investigation of the effect of the transverse arytenoid ligament on abduction of the arytenoid cartilage when performing equine laryngoplasty (2019)
Journal Article
Chesworth, M., Brandenberger, O., Cheetham, J., Windley, Z., Schumacher, J., Cochran, K., Piercy, R. J., & Perkins, J. D. M. (2019). Ex vivo investigation of the effect of the transverse arytenoid ligament on abduction of the arytenoid cartilage when performing equine laryngoplasty. New Zealand Veterinary Journal, 67(5), 264-269. https://doi.org/10.1080/00480169.2019.1635538

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.

Identification and validation of genetic variants predictive of gait in standardbred horses (2019)
Journal Article
McCoy, A. M., Beeson, S. K., Rubin, C.-J., Andersson, L., Caputo, P., Lykkjen, S., Moore, A., Piercy, R. J., Mickelson, J. R., & McCue, M. E. (2019). Identification and validation of genetic variants predictive of gait in standardbred horses. PLoS Genetics, 15, e1008146. https://doi.org/10.1371/journal.pgen.1008146

Several horse breeds have been specifically selected for the ability to exhibit alternative patterns of locomotion, or gaits. A premature stop codon in the gene DMRT3 is permissive for “gaitedness” across breeds. However, this mutation is nearly fixe... Read More about Identification and validation of genetic variants predictive of gait in standardbred horses.

Functional Electrical Stimulation following nerve injury in a Large Animal Model (2019)
Journal Article
Cercone, M., Jarvis, J., Ducharme, N., Perkins, J. D. M., Piercy, R. J., Willand, M., Mitchell, L., Sledziona, M., Soderholm, L. V., & Cheetham, J. (2019). Functional Electrical Stimulation following nerve injury in a Large Animal Model. Muscle & Nerve, 59(6), 717-725. https://doi.org/10.1002/mus.26460

Introduction: Controversy exists over the effects of functional electrical stimulation (FES) on reinnervation. We hypothesized that intramuscular FES would not delay reinnervation after recurrent laryngeal nerve (RLn) axonotmesis. Methods: RLn cryo‐i... Read More about Functional Electrical Stimulation following nerve injury in a Large Animal Model.

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.

Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation (2018)
Journal Article
González-Medina, S., Hyde, C., Lovera, I., & Piercy, R. J. (2018). Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation. PLoS ONE, 13(7), e0199521. https://doi.org/10.1371/journal.pone.0199521

Hypoglycin A (HGA) toxicity, following ingestion of material from certain plants, is linked to an acquired multiple acyl-CoA dehydrogenase deficiency known as atypical myopathy, a commonly fatal form of equine rhabdomyolysis seen worldwide. Whilst so... Read More about Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.

Pathological classification of equine recurrent laryngeal neuropathy (2018)
Journal Article
Draper, A. C. E., & Piercy, R. J. (2018). Pathological classification of equine recurrent laryngeal neuropathy. Journal of Veterinary Internal Medicine, 32(4), 1397-1409. https://doi.org/10.1111/jvim.15142

Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle p... Read More about Pathological classification of equine recurrent laryngeal neuropathy.

Arthroscopic treatment for cervical articular process joint osteochondrosis in a Thoroughbred horse (2018)
Journal Article
Tucker, R., Piercy, R. J., Dixon, J. J., Muir, C. F., Smith, K. C., Potter, K. E., Leaman, T. R., & Smith, R. K. W. (2018). Arthroscopic treatment for cervical articular process joint osteochondrosis in a Thoroughbred horse. Equine Veterinary Education, 30(3), 116-121. https://doi.org/10.1111/eve.12610

A yearling Thoroughbred colt was presented for investigation of neck stiffness and episodes of intermittent neck pain without neurological signs. Osteochondrosis (OCD) of the cervical articular process joints (APJs) was diagnosed with the aid of radi... Read More about Arthroscopic treatment for cervical articular process joint osteochondrosis in a Thoroughbred horse.

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems (2017)
Journal Article
Walmsley, G. L., Blott, S., Venner, K., Sewry, C., Laport, J., Blondelle, J., Barthelemy, I., Maurer, M., Blanchard-Gutton, N., Pilot-Storck, F., Tiret, L., & Piercy, R. J. (2017). Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. American Journal of Pathology, 187(2), 441-456. https://doi.org/10.1016/j.ajpath.2016.10.002

Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated m... Read More about Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.

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

Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal (2016)
Journal Article
Molenaar, F. M., Piercy, R. J., Dunkel, B., Manning, N., English, K., Stidworthy, M., & Masters, N. J. (2016). Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal. https://doi.org/10.19227/jzar.v4i2.156

One of the 172 UK cases of equine atypical myopathy (EAM) reported to the Atypical Myopathy Alert Group (AMAG) in 2014 was that of a five-month old male Przewalski horse (Equus ferus przewalskii), resident at ZSL Whipsnade Zoo, UK. The foal presented... Read More about Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal.