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- W2034273800 abstract "Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with both dominant and recessive inheritance in humans. RYR1 mutations have been identified in patients with central core, multiminicore, congenital fiber type disproportion, centronuclear, as well as nemaline myopathies. Additionally, RYR1 channels become leaky in certain forms of muscular dystrophy. Some RYR1 mutations also cause malignant hyperthermia susceptibility (MHS) trait and King Denborough syndrome. Although RYR1 mutations are the underlying cause of a number of genetic diseases, no specific and effective therapies are available to treat affected patients. To address these issues and develop therapies for patients with RYR1 deficiency, we are performing a high throughput chemical screen to identify lead compounds with therapeutic potential that can rescue the function of skeletal muscle in ryr1b deficient zebrafish. In the primary screen using ryr1b fish, we are screening the Prestwick chemical library using pools of four chemicals (280 pools, 1120 chemicals) for ability to improve spontaneous hatching and postnatal motility. We have identified 34 pools of chemicals (of 148 tested) that significantly improved muscle function and survival of the treated mutant fish in comparison to untreated mutants, as tested with touch evoke escape response assay. A secondary screen using individual chemicals from positive pools is in progress to identify the best combination of chemical/s that improve muscle function and survival of ryr1b mutant fish. As the functional roles of effective compounds become known, our drug screen will lead to identification of new pathways in congenital myopathies and to design of improved therapies to treat patients affected with a variety of congenital myopathies, dystrophies, malignant hyperthermia susceptibility (MHS) and King Denborough syndrome." @default.
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- W2034273800 date "2013-10-01" @default.
- W2034273800 modified "2023-09-28" @default.
- W2034273800 title "P.4.11 Developing therapies for congenital myopathies by high throughput chemical screening in ryanodine receptor 1 mutant zebrafish" @default.
- W2034273800 doi "https://doi.org/10.1016/j.nmd.2013.06.449" @default.
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