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filingDate 2017-08-18-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2020-01-09-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-WO2018034334-A1
titleOfInvention A therapeutic agent for diseases associated with abnormal dystroglycan sugar chain modification and a method for measuring related enzymes
abstract Provided is a therapeutic agent that works effectively for diseases associated with abnormal dystroglycan sugar chain modification. Provided is a method for testing a disease associated with dystroglycan sugar chain abnormality. It is based on a therapeutic agent for a disease associated with abnormal dystroglycan sugar chain modification, which contains CDP-ribitol as an active ingredient. Ribitol phosphate is important in the sugar chain structure of dystroglycan, and the material (sugar donor) is required for ribitol phosphate to be incorporated into the dystroglycan sugar chain. It has been found for the first time in the present invention that CDP-ribitol is a sugar donor. It has been confirmed that the administration of CDP-ribitol can restore the sugar chains of ISPD-deficient cells, and the present invention has been completed in which CDP-ribitol can be used for replacement therapy.
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