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.
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|Yu, Qing; Morales, Melissa; Li, Ning et al. (2018) Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy. Skelet Muscle 8:13|
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|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|
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|Echigoya, Yusuke; Lim, Kenji Rowel Q; Trieu, Nhu et al. (2017) Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy. Mol Ther 25:2561-2572|
|Benny Klimek, Margaret E; Sali, Arpana; Rayavarapu, Sree et al. (2016) Effect of the IL-1 Receptor Antagonist Kineret® on Disease Phenotype in mdx Mice. PLoS One 11:e0155944|
|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|
|Hathout, Yetrib; Conklin, Laurie S; Seol, Haeri et al. (2016) Serum pharmacodynamic biomarkers for chronic corticosteroid treatment of children. Sci Rep 6:31727|
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