Skip to main content

Research Repository

Advanced Search

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.

Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS) (2018)
Journal Article
Kondori, N. R., Paul, P., Robbins, J. P., Liu, K., Hildyard, J. C. W., Wells, D. J., & De Belleroche, J. S. (2018). Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS). Frontiers in Molecular Biosciences, 5(8), https://doi.org/10.3389/fmolb.2018.00008

Highly pathogenic avian influenza (HPAI) H5N1 virus has been circulating in Vietnam since 2003, while outbreaks of HPAI H5N6 virus are more recent, having only been reported since 2014. Although the spatial distribution of H5N1 outbreaks and risk fac... Read More about Focus on the Role of D-serine and D-amino Acid Oxidase in Amyotrophic Lateral Sclerosis/Motor Neuron Disease (ALS).

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? (2016)
Journal Article
Hildyard, J. C. W., Lacey, E., Booler, H., Hopkinson, M., Wells, D. J., & Brown, S. C. (2016). Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?. PLoS ONE, 11(7), e0159853. https://doi.org/10.1371/journal.pone.0159853

LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular d... Read More about Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?.

Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons
Journal Article
Kondori, N. R., Paul, P., Robbins, J. P., Liu, K., Hildyard, J. C. W., Wells, D. J., & De Belleroche, J. S. (in press). Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons. PLoS ONE, 12, e0188912. https://doi.org/10.1371/journal.pone.0188912

Amyotrophic lateral sclerosis (ALS) is the most common adult-onset neuromuscular disorder characterised by selective loss of motor neurons leading to fatal paralysis. Current therapeutic approaches are limited in their effectiveness. Substantial adva... Read More about Characterisation of the pathogenic effects of the in vivo expression of an ALS-linked mutation in D-amino acid oxidase: Phenotype and loss of spinal cord motor neurons.