Disease mechanisms in myofibrillar myopathies
$281,146ZIAFY2012NSNIH
National Institute Of Neurological Disorders And Stroke
Investigators
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Abstract
An initial screen to identify novel ZASP interactors has been completed. Select interactions have been validated using pairwise yeast two-hybrid assays, co-immunoprecipitation, pulldown, and colocalization methods. Electroporation of cDNA into mouse skeletal muscle has been successfully accomplished, and effects of WT and mutant ZASP on mouse muscle have been analyzed. ZASP proteins have been purified and used in in vitro assays to determine their activity on select protein interactors. Transgenic mice are under development. We have enrolled 12 subjects with Duchenne muscular dystrophy (DMD) and 6 healthy volunteer boys to the DMD Imaging study (protocol ID 11-N-0261).
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