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    • 95. 发明专利
    • Method and composition for modulating sialic acid production and treating hereditary inclusion body myopathy
    • 调节酸乳酸生产的方法和组合物,并处理包括身体的肌肉酸痛
    • JP2014028816A
    • 2014-02-13
    • JP2013171858
    • 2013-08-22
    • Gradalis Incグラダリス インク.Gradalis,Inc.
    • MAPLES PHILLIPCHRIS JAYJOHN NEMUNAITIS
    • A61K48/00A61K9/08A61K9/16A61K38/45A61K38/52A61K47/44A61K47/48A61P3/00A61P21/00A61P43/00C12N15/09
    • A61K48/005C12N9/90C12N15/85C12Y501/03014
    • PROBLEM TO BE SOLVED: To provide methods and compositions for modulating sialic acid production in a system, as well as methods and compositions for treating and/or preventing Hereditary Inclusion Body Myopathy and/or symptoms thereof.SOLUTION: Methods for modulating the production of sialic acid in a system are provided, which comprise providing the system with a wild-type GNE-encoding nucleic acid sequence, wherein the system comprises a cell, muscular tissue, or other desirable targets. The present invention encompasses methods for producing wild-type GNE in a system that comprises a mutated endogenous GNE-encoding sequence, which methods comprise providing, for example, a cell or muscular tissue that harbors a mutated (defective) GNE-encoding sequence with a functional wild-type GNE encoding sequence. Also provided is a method for modulating the production of sialic acid in a system, which comprises providing the system with a wild-type GNE-encoding nucleic acid sequence comprising a promoter being the CMV promoter.
    • 要解决的问题:提供用于调节系统中唾液酸生产的方法和组合物,以及用于治疗和/或预防遗传性包涵体肌病和/或其症状的方法和组合物。解决方案:调节唾液酸生产的方法 提供系统中的酸,其包括向系统提供编码野生型GNE的核酸序列,其中所述系统包含细胞,肌肉组织或其它期望的靶标。 本发明包括在包含突变的内源性GNE编码序列的系统中产生野生型GNE的方法,所述方法包括提供例如含有突变(缺陷)GNE编码序列的细胞或肌肉组织,其具有 功能野生型GNE编码序列。 还提供了一种用于调节系统中唾液酸生成的方法,其包括向系统提供包含CMV启动子的启动子的野生型GNE编码核酸序列。