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All Outputs (4)

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?.

Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy (2016)
Journal Article
Booler, H., Williams, J., Hopkinson, M., & Brown, S. C. (2016). Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy. Brain Pathology, 26(4), 465-478. https://doi.org/10.1111/bpa.12306

The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.... Read More about Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy.

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies (2016)
Journal Article
Kim, J., Hopkinson, M., Kavishwar, M., Fernandez-Fuente, M., & Brown, S. C. (2016). Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. Skeletal Muscle, 6(3), https://doi.org/10.1186/s13395-016-0073-y

The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies. Mutations in the gene encoding fukutin-related protein (FKRP) are one of the mos... Read More about Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.