The Muscle Phenotyping and Imaging Core serves as a resource for both muscle biologists and other life scientists to employ a variety of assessment tools for the study of muscle phenotypes. With advances in technologies to create genetically engineered mice, the need for expertise in muscle biology has grown, as unanticipated muscle phenotypes have resulted from ablation of target genes. Since non-muscle researchers lack the necessary experience, training and technical instrumentation to accomplish this goal, the Muscle Phenotyping and Imaging Core fulfills a void that provides a useful resource, which allows nonmuscle biologists to capitalize on available expertise, specialized protocols and instrumentation. Furthermore, by lowering barriers for non-muscle scientists to carry out muscle-related studies, by providing education and an ecosystem of scientists and activities focused on muscle biology, the Core attract new scientists to the muscle field. Moreover, technological advances now permit the production of vast libraries of small molecules with potential therapeutic applications, and enable high-throughput, robotic, functional invitro analysis, to identify drugs to target focused pathways. The High-throughput Screening and Cell Repository Core (Core B) ofthis application, along with the resources of the UCLA Molecular Screening Shared Resource (MSSR) provides screening capabilities to UCLA investigators interested in finding treatments for neuromuscular diseases. A major challenge for translational research lies in the extension of these in vitro findings to complex mammalian systems in vivo, where experimental outcomes may differ importantly from observations made on single cell types. This Core provides a means for investigators to test lead therapeutic compounds in mice and evaluate the effect of these compounds on muscle pathology and function. In addition to assessing muscle phenotypes using traditional approaches, the Core emphasizes the development of innovative, non-invasive methodologies, which provide unique resources to investigate physiological oiJtcomes in longitudinal studies.
Translating basic science studies to clinical trials requires the use of animal models, to test drug efficacy and safety. Core C provides a resource to researchers interested in gaining expertise or using technology designed for phenotyping mouse muscle.
|Villalta, S Armando; Rosenthal, Wendy; Martinez, Leonel et al. (2014) Regulatory T cells suppress muscle inflammation and injury in muscular dystrophy. Sci Transl Med 6:258ra142|
|Ermolova, N V; Martinez, L; Vetrone, S A et al. (2014) Long-term administration of the TNF blocking drug Remicade (cV1q) to mdx mice reduces skeletal and cardiac muscle fibrosis, but negatively impacts cardiac function. Neuromuscul Disord 24:583-95|
|Swaggart, Kayleigh A; Demonbreun, Alexis R; Vo, Andy H et al. (2014) Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proc Natl Acad Sci U S A 111:6004-9|
|Nelson, Michael D; Rader, Florian; Tang, Xiu et al. (2014) PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy. Neurology 82:2085-91|
|Lee, Hane; Deignan, Joshua L; Dorrani, Naghmeh et al. (2014) Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA 312:1880-7|
|Sareen, Dhruv; O'Rourke, Jacqueline G; Meera, Pratap et al. (2013) Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 5:208ra149|
|Rudnik-Schoneborn, Sabine; Senderek, Jan; Jen, Joanna C et al. (2013) Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology 80:438-46|
|Marshall, Jamie L; Kwok, Yukwah; McMorran, Brian J et al. (2013) The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy. FEBS J 280:4210-29|
|Wan, Jijun; Yourshaw, Michael; Mamsa, Hafsa et al. (2012) Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet 44:704-8|
|Kudryashova, Elena; Kramerova, Irina; Spencer, Melissa J (2012) Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. J Clin Invest 122:1764-76|
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