All Outputs (3)

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