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.

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.

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., …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.

Kinematic discrimination of ataxia in horses is facilitated by blindfolding (2018)
Journal Article
Olsen, E., Fouche, N., Jordan, H., Pfau, T., & Piercy, R. J. (2018). Kinematic discrimination of ataxia in horses is facilitated by blindfolding. Equine Veterinary Journal, 50(2), 166-171. https://doi.org/10.1111/evj.12737

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy (2017)
Journal Article
Nghiem, P. P., Bello, L., Balog-Alvarez, C., López, S. M., Bettis, A., Barnett, H., …Kornegay, J. N. (2017). Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy. Mammalian Genome, 28(3), 106-113. https://doi.org/10.1007/s00335-016-9675-2

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., …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., …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

Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis (2016)
Journal Article
Scalco, R. S., Voermans, N. C., Piercy, R. J., Jungbluth, H., & Quinlivan, R. (2016). Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis. European Journal of Neurology, 23(8), e56-e57. https://doi.org/10.1111/ene.13051

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.

Ultrasonography detects early laryngeal muscle atrophy in an equine neurectomy model (2016)
Journal Article
Chalmers, H. J., Caswell, J., Perkins, J. D. M., Goodwin, D., Viel, L., Ducharme, N. G., & Piercy, R. J. (2016). Ultrasonography detects early laryngeal muscle atrophy in an equine neurectomy model. Muscle & Nerve, 53(4), 583-592. https://doi.org/10.1002/mus.24785

Effects of Functional Electrical Stimulation on Denervated Laryngeal Muscle in a Large Animal Model (2015)
Journal Article
Cheetham, J., Perkins, J. D. M., Jarvis, J. C., Cercone, M., Maw, M., Hermanson, J. W., …Ducharme, N. G. (2015). Effects of Functional Electrical Stimulation on Denervated Laryngeal Muscle in a Large Animal Model. Artificial Organs, 39(10), 876-885. https://doi.org/10.1111/aor.12624

Bilateral vocal fold paralysis (BVCP) is a life‐threatening condition that follows injury to the Recurrent Laryngeal nerve (RLn) and denervation of the intrinsic laryngeal musculature. Functional electrical stimulation (FES) enables restoration and c... Read More about Effects of Functional Electrical Stimulation on Denervated Laryngeal Muscle in a Large Animal Model.

HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth (2015)
Journal Article
Blondelle, J., Ohno, Y., Gache, V., Guyot, S., Storck, S., Blanchard-Gutton, N., …Pilot-Storck, F. (2015). HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth. Journal of Molecular Cell Biology, 7(5), 429-440. https://doi.org/10.1093/jmcb/mjv049

The reduced diameter of skeletal myofibres is a hallmark of several congenital myopathies, yet the underlying cellular and molecular mechanisms remain elusive. In this study, we investigate the role of HACD1/PTPLA, which is involved in the elongation... Read More about HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.

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.

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

The 3D anatomy of the cervical articular process joints in the horse and their topographical relationship to the spinal cord
Journal Article
Claridge, H. A. H., Piercy, R. J., Parry, A., & Weller, R. The 3D anatomy of the cervical articular process joints in the horse and their topographical relationship to the spinal cord. Equine Veterinary Journal, 42(8), 726-731. https://doi.org/10.1111/j.2042-3306.2010.00114.x

Multiple immunofluorescence labelling enables simultaneous identification of all mature fibre types in a single equine skeletal muscle cryosection
Journal Article
Tulloch, L. K., Perkins, J. D. M., & Piercy, R. J. Multiple immunofluorescence labelling enables simultaneous identification of all mature fibre types in a single equine skeletal muscle cryosection. Equine Veterinary Journal, 43(4), 500-503. https://doi.org/10.1111/j.2042-3306.2010.00329.x