Browse

Phenotypic Spectrum of ?-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice (2020)
Journal Article
Brown, S. C., Fernandez-Fuente, M., Muntoni, F., & Vissing, J. (2020). Phenotypic Spectrum of ?-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice. Journal of Neuropathology and Experimental Neurology,

Abstract Mutations in the fukutin-related protein gene, FKRP, are the most frequent single cause of ?-dystroglycanopathy. Rare FKRP mutations are clinically not well characterized. Here, we review the phenotype associated with the rare c.919T>... Read More about Phenotypic Spectrum of ?-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.

The 220th ENMC workshop: Dystroglycan and the Dystroglycanopathies held on the 27-29 May 2016, Naarden, The Netherlands (2017)
Journal Article
Brown, S. C., Winder, S. J., & on behalf of the ENMC DGpathy Study Group, . (2017). The 220th ENMC workshop: Dystroglycan and the Dystroglycanopathies held on the 27-29 May 2016, Naarden, The Netherlands. Neuromuscular Disorders, 27(4), 387-395. https://doi.org/10.1016/j.nmd.2016.12.010

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. (2017)
Journal Article
Booler, H., Pagalday-Vergara, V., Williams, J. L., Hopkinson, M., & Brown, S. C. (2017). Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. Neuropathology and Applied Neurobiology, 43(4), 330-345. https://doi.org/10.1111/nan.12376

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 ?-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.

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.

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle (2010)
Journal Article
Brockington, M. A., Torelli, S., Sharp, P. S., Liu, K., Cirak, S., Brown, S. C., …Muntoni, F. (2010). Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle. PLoS ONE, 5(12), e14434. https://doi.org/10.1371/journal.pone.0014434

Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy
Journal Article
Piercy, R. J., Zhou, H. Y., Feng, L., Pombo, A., Muntoni, F., & Brown, S. C. Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscular Disorders, 17(4), 297-305. https://doi.org/10.1016/j.nmd.2007.01.003

Lack of myostatin results in excessive muscle growth but impaired force generation
Journal Article
Amthor, H., Macharia, R., Navarrete, R., Schuelke, M., Brown, S. C., Otto, A., …Patel, K. Lack of myostatin results in excessive muscle growth but impaired force generation. https://doi.org/10.1073/pnas.0604893104

Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1
Journal Article
Fernandez-Fuente, M., Ames, E. G., Wagner, M. L., Zhou, H., Strom, M., Zammit, P. S., …Piercy, R. J. Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. American Journal of Veterinary Research, 69(12), 1637-1645. https://doi.org/10.2460/ajvr.69.12.1637

Objective - To develop a reliable method for converting cultured equine skin-derived fibroblasts into muscle cells. Sample Population - Equine skin-derived fibroblasts. Procedures - The equine myogenic differentiation 1 (eqMyoD) genomic sequence was... Read More about Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant
Journal Article
Clement, E. M., Godfrey, C., Tan, J., Brockington, M. A., Torelli, S., Feng, L., …Muntoni, F. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. https://doi.org/10.1001/archneurol.2007.2

Investigating the pathology of Emery-Dreifuss muscular dystrophy
Journal Article
Brown, S. C., Piercy, R. J., Muntoni, F., & Sewry, C. A. Investigating the pathology of Emery-Dreifuss muscular dystrophy. Biochemical Society Transactions, 36(Pt 6), 1335-1338. https://doi.org/10.1042/bst0361335

EDMD (Emery-Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2-q21.3 of emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linke... Read More about Investigating the pathology of Emery-Dreifuss muscular dystrophy.

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Journal Article
Jimenez-Mallebrera, C., Torelli, S., Feng, L., Kim, J., Godfrey, C., Clement, E., …Muntoni, F. A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathology, 19(4), 596-611. https://doi.org/10.1111/j.1750-3639.2008.00198.x

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
Journal Article
Ackroyd, M. R., Skordis, L., Kaluarachchi, M., Godwin, J., Prior, S., Fidanboylu, M., …Brown, S. C. Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain, 132, 439-451. https://doi.org/10.1093/brain/awn335

Altered primary and secondary myogenesis in the myostatin-null mouse
Journal Article
Matsakas, A., Otto, A., Elashry, M. I., Brown, S. C., & Patel, K. Altered primary and secondary myogenesis in the myostatin-null mouse. Rejuvenation Research, 13(6), 712-27. https://doi.org/10.1089/rej.2010.1065

Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression
Journal Article
Arechavala-Gomeza, V., Kinali, M., Feng, L., Brown, S. C., Sewry, C., Morgan, J. E., & Muntoni, F. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathology and Applied Neurobiology, 36(4), 265-74. https://doi.org/10.1111/j.1365-2990.2009.01056.x

ASSESSING THE THERAPEUTIC POTENTIAL OF LARGE IN A NEW MOUSE MODEL OF DYSTROGLYCANOPATHY
Journal Article
Whitmore, C., Ackroyd, M. R., Muses, S., Ashraf, A., Muntoni, F., Brown, S. C., & Wells, D. J. ASSESSING THE THERAPEUTIC POTENTIAL OF LARGE IN A NEW MOUSE MODEL OF DYSTROGLYCANOPATHY. Neuromuscular Disorders, 21(9-10), 665-665. https://doi.org/10.1016/j.nmd.2011.06.838

DEPOSITION OF THE INNER LIMITING MEMBRANE IN THE EYE OF A MOUSE MODEL FOR MUSCLE EYE BRAIN DISEASE
Journal Article
Whitmore, C., Ackroyd, M. R., Ashraf, A., & Brown, S. C. DEPOSITION OF THE INNER LIMITING MEMBRANE IN THE EYE OF A MOUSE MODEL FOR MUSCLE EYE BRAIN DISEASE. Neuromuscular Disorders, 21(9-10), 665-665. https://doi.org/10.1016/j.nmd.2011.06.839