申请人:Jnana Therapeutics, Inc.
公开号:US20210299070A1
公开(公告)日:2021-09-30
Disclosed are methods of treating creatine transporter deficiency, comprising administering to a mammal in need thereof a therapeutically effective amount of a compound that increases transport of a substrate by a mutant or wild-type creatine transporter. Also disclosed are methods of increasing transport of guanidinoacetic acid or a salt thereof across the blood-brain barrier of a mammal, and methods of decreasing accumulation or the concentration of guanidinoacetic acid or a salt thereof in a mammalian cell.
揭示了治疗肌酸转运蛋白缺乏症的方法,包括向需要的哺乳动物施用增加突变型或野生型肌酸转运蛋白对底物转运的化合物的治疗有效量。还披露了增加鸟氨酸乙酸或其盐跨越哺乳动物血脑屏障的方法,以及减少哺乳动物细胞中鸟氨酸乙酸或其盐的积累或浓度的方法。