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Genetic characterisation of the Connemara pony and the Warmblood horse using a within-breed clustering approach (2023)
Journal Article
Lindsay-McGee, V., Sanchez-Molano, E., Banos, G., Clark, E., Piercy, R., & Psifidi, A. (2023). Genetic characterisation of the Connemara pony and the Warmblood horse using a within-breed clustering approach. Genetics Selection Evolution, 55(1), https://doi.org/10.1186/s12711-023-00827-w

BackgroundThe Connemara pony (CP) is an Irish breed that has experienced varied selection by breeders over the last fifty years, with objectives ranging from the traditional hardy pony to an agile athlete. We compared these ponies with well-studied W... Read More about Genetic characterisation of the Connemara pony and the Warmblood horse using a within-breed clustering approach.

Serum inflammatory cytokines as disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy (2022)
Journal Article
Piercy, R., Riddell, D., Hildyard, J., Harron, R., & Wells, D. (2022). Serum inflammatory cytokines as disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy. Neuromuscular Disorders, https://doi.org/10.1242/dmm.049394

Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease, caused by mutations in the dystrophin gene, characterised by cycles of muscle degeneration, inflammation and regeneration. The DE50-MD dog is a canine model of DMD that closely mimi... Read More about Serum inflammatory cytokines as disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy.

Cultured dissociated primary dorsal root ganglion neurons from adult horses enable study of axonal transport (2022)
Journal Article
Adalbert, R., Cahalan, S., Hopkins, E., Almuhanna, A., Loreto, A., Por, E., …Piercy, R. (2022). Cultured dissociated primary dorsal root ganglion neurons from adult horses enable study of axonal transport. Journal of Anatomy, https://doi.org/10.1111/joa.13719

Neurological disorders are prevalent in horses, but their study is challenging due to anatomic constraints and the large body size; very few host-specific in vitro models have been established to study these types of diseases, particularly from adult... Read More about Cultured dissociated primary dorsal root ganglion neurons from adult horses enable study of axonal transport.

Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy (2022)
Journal Article
Riddell, D. O., Hildyard, J. C. W., Harron, R. C. M., Wells, D. J., & Piercy, R. J. (in press). Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy. Wellcome Open Research, https://doi.org/10.12688/wellcomeopenres.17398.1

Background: Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease affecting approximately 1 in 6000 male births worldwide. Due to their phenotypic similarity to human patients, large animal models are invaluable tools for pre-clinical t... Read More about Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy.

Validation of DE50-MD dogs as a model for the cognitive and biochemical defects in the brain phenotype of Duchenne muscular dystrophy (2022)
Journal Article
Crawford, A., Hildyard, J., Rushing, S., Wells, D., Diez Leon, M., & Piercy, R. (in press). Validation of DE50-MD dogs as a model for the cognitive and biochemical defects in the brain phenotype of Duchenne muscular dystrophy. eLife, https://doi.org/10.1242/dmm.049291

Duchenne muscular dystrophy (DMD), a fatal musculoskeletal disorder, is associated with neurodevelopmental problems and cognitive impairment caused by dystrophin deficiency in the brain. Dog models of DMD represent key translational tools to study... Read More about Validation of DE50-MD dogs as a model for the cognitive and biochemical defects in the brain phenotype of Duchenne muscular dystrophy.

VCF Files (2021)
Dataset
Pollott, G., Wathes, D. C., Piercy, R., Massey, C., Salavati, M., & Cheng, Z. VCF Files. [Dataset]

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.

Immunohistochemical and morphological characterisation of equine recurrent laryngeal and distal limb nerves supports classification of recurrent laryngeal neuropathy as a polyneuropathy (2019)
Journal Article
Almuhanna, A. H., Cahalan, S., Goodwin, D., Perkins, J. D. M., & Piercy, R. J. (2019). Immunohistochemical and morphological characterisation of equine recurrent laryngeal and distal limb nerves supports classification of recurrent laryngeal neuropathy as a polyneuropathy. Equine Veterinary Journal, 51(S53), 27. https://doi.org/10.1111/evj.46_13152

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., …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., Andersson, L., Caputo, P., Lykkjen, S., …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., …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., …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.