Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of beta-catenin signaling
(2017)
Journal Article
Berwick, D. C., Javaheri, B., Wetzel, A., Hopkinson, M., Nixon-Abell, J., Granno, S., …Harvey, K. (2017). Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of beta-catenin signaling. Molecular Neurodegeneration, 12(9), https://doi.org/10.1186/s13024-017-0153-4
Outputs (22)
Dmp1 Promoter-Driven Diphtheria Toxin Receptor Transgene Expression Directs Unforeseen Effects in Multiple Tissues (2017)
Journal Article
Al-Jazzar, A., Javaheri, B., Prideaux, M., Boyde, A., Scudamore, C. L., Cherifi, C., …Pitsillides, A. A. (2017). Dmp1 Promoter-Driven Diphtheria Toxin Receptor Transgene Expression Directs Unforeseen Effects in Multiple Tissues. International Journal of Molecular Sciences, 18(1), https://doi.org/10.3390/ijms18010029Mice harbouring a dentin matrix protein 1 (Dmp1) promoter-driven human diphtheria toxin (DT) receptor (HDTR) transgene (Tg) have recently been used to attain targeted ablation of osteocytes by diphtheria toxin (DT) treatment in order to define osteoc... Read More about Dmp1 Promoter-Driven Diphtheria Toxin Receptor Transgene Expression Directs Unforeseen Effects in Multiple Tissues.
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.0159853LARGE 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.12306The 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-yThe 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.
Endochondral growth defect and deployment of transient chondrocyte behaviours underlie osteoarthritis onset in a natural murine model (2016)
Journal Article
Staines, K. A., Madi, K., Mirczuk, S. M., Parker, S., Burleigh, A., Poulet, B., …Pitsillides, A. A. (2016). Endochondral growth defect and deployment of transient chondrocyte behaviours underlie osteoarthritis onset in a natural murine model. https://doi.org/10.1002/art.39508
Chronic administration of Glucagon-like peptide-1 receptor agonists improves trabecular bone mass and architecture in ovariectomised mice (2015)
Journal Article
Pereira, M., Jeyabalan, J., Jorgensen, C. S., Hopkinson, M., Al-Jazzar, A., Roux, J. P., …Chenu, C. (2015). Chronic administration of Glucagon-like peptide-1 receptor agonists improves trabecular bone mass and architecture in ovariectomised mice. BONE, 81, 459-67. https://doi.org/10.1016/j.bone.2015.08.006Some anti-diabetic therapies can have adverse effects on bone health and increase fracture risk. In this study, we tested the skeletal effects of chronic administration of two Glucagon-like peptide-1 receptor agonists (GLP-1RA), increasingly used for... Read More about Chronic administration of Glucagon-like peptide-1 receptor agonists improves trabecular bone mass and architecture in ovariectomised mice.
Excessive growth hormone expression in male GH transgenic mice adversely alters bone architecture and mechanical strength (2015)
Journal Article
Lim, S., Marenzana, M., Hopkinson, M., List, E., Kopchick, J., Pereira, M., …Chenu, C. (2015). Excessive growth hormone expression in male GH transgenic mice adversely alters bone architecture and mechanical strength. Endocrinology, 156(4), 1362-1371. https://doi.org/10.1210/en.2014-1572Patients with acromegaly have a higher prevalence of vertebral fractures despite normal bone mineral density (BMD), suggesting that GH overexpression has adverse effects on skeletal architecture and strength. We used giant bovine GH (bGH) transgenic... Read More about Excessive growth hormone expression in male GH transgenic mice adversely alters bone architecture and mechanical strength.
Deficiency and Also Transgenic Overexpression of Timp-3 Both Lead to Compromised Bone Mass and Architecture In Vivo
Journal Article
Javaheri, B., Hopkinson, M., Poulet, B., Pollard, A. S., Shefelbine, S. J., Chang, Y. M., …Pitsillides, A. A. (in press). Deficiency and Also Transgenic Overexpression of Timp-3 Both Lead to Compromised Bone Mass and Architecture In Vivo. PLoS ONE, 11(8), e0159657. https://doi.org/10.1371/journal.pone.0159657
STR/ORT MICE EXHIBIT AN INHERENT ENDOCHONDRAL GROWTH DEFECT AND REDEPLOY TRANSIENT CHONDROCYTE BEHAVIOURS PRIOR TO OSTEOARTHRITIS ONSET
Journal Article
Staines, K. A., Parker, S., Poulet, B., Mirczuk, S. M., Fowkes, R. C., Hopkinson, M., …Pitsillides, A. A. STR/ORT MICE EXHIBIT AN INHERENT ENDOCHONDRAL GROWTH DEFECT AND REDEPLOY TRANSIENT CHONDROCYTE BEHAVIOURS PRIOR TO OSTEOARTHRITIS ONSET. Osteoarthritis and Cartilage, 22, S357-S357