Core B provides in vitro and in vivo assays for determining the biochemical functionality of BMD-like dystrophin proteins. These internally deleted semi-functional proteins are generated by the other research projects and cores, and include studies of endogenous proteins in human cells from patients with wellcharacterized in-frame mutations (Projects 1, 3), murine constructs of specific deletions delivered to cells or mice in vh/o (Project 1), and in-frame deletions accomplished by exon-skipping therapeutics (Project 2).
The specific aims of Core B include well-established assays developed by the five collaborating laboratories within the Research Center for Genetic Medicine at Children's National Medical Center. An innovative assay offered by Core B is our recently published live-animal imaging method for assessment of muscular dystrophy activity using a near-infrared cathepsin B caged substrate (Baudy et al 2010). An additional innovative assay is quantitative secretome measures of membrane instability using MS/MS profiling. Resource sharing will include publication and public access of standard operating procedures for each assay, as we have done collaboratively with the EU Treat-NMD network for murine pre-clinical endpoints (www.treat-nmd.eu/research/preclinical/SOPs/) (Nagaraju 2009;Spurney et al. 2009). We also offer in vivo assays as a core function for drug screening to external laboratories, and in vitro assays to external laboratories on a collaborative basis.
|Jain, H V; Boehler, J F; Verthelyi, D et al. (2017) An amphipathic trans-acting phosphorothioate RNA element delivers an uncharged phosphorodiamidate morpholino sequence in mdx mouse myotubes. RSC Adv 7:42519-42528|
|Defour, Aurelia; Medikayala, Sushma; Van der Meulen, Jack H et al. (2017) Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle. Hum Mol Genet 26:1979-1991|
|Vila, Maria C; Rayavarapu, Sree; Hogarth, Marshall W et al. (2017) Mitochondria mediate cell membrane repair and contribute to Duchenne muscular dystrophy. Cell Death Differ 24:330-342|
|Hathout, Yetrib; Seol, Haeri; Han, Meng Hsuan J et al. (2016) Clinical utility of serum biomarkers in Duchenne muscular dystrophy. Clin Proteomics 13:9|
|Coley, William D; Bogdanik, Laurent; Vila, Maria Candida et al. (2016) Effect of genetic background on the dystrophic phenotype in mdx mice. Hum Mol Genet 25:130-45|
|Loell, Ingela; Raouf, Joan; Chen, Yi-Wen et al. (2016) Effects on muscle tissue remodeling and lipid metabolism in muscle tissue from adult patients with polymyositis or dermatomyositis treated with immunosuppressive agents. Arthritis Res Ther 18:136|
|Hathout, Yetrib; Conklin, Laurie S; Seol, Haeri et al. (2016) Serum pharmacodynamic biomarkers for chronic corticosteroid treatment of children. Sci Rep 6:31727|
|Boca, Simina M; Nishida, Maki; Harris, Michael et al. (2016) Discovery of Metabolic Biomarkers for Duchenne Muscular Dystrophy within a Natural History Study. PLoS One 11:e0153461|
|Many, Gina M; Yokosaki, Yasuyuki; Uaesoontrachoon, Kitipong et al. (2016) OPN-a induces muscle inflammation by increasing recruitment and activation of pro-inflammatory macrophages. Exp Physiol 101:1285-1300|
|Sreetama, S C; Takano, T; Nedergaard, M et al. (2016) Injured astrocytes are repaired by Synaptotagmin XI-regulated lysosome exocytosis. Cell Death Differ 23:596-607|
Showing the most recent 10 out of 37 publications