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有c.1699T>C (p.S567P) 突变的SLC6A8功能障碍的分子机制 在脑肌酸缺乏综合征中

Ryuta Jomura1, Masaru Sawada1, Yuma Tega1

  • 1Department of Pharmaceutics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama.

Biological & pharmaceutical bulletin
|January 17, 2024
PubMed
概括

大脑肌酸缺乏综合征 (CCDS) 是由于肌酸运输受损而产生的. 一种特定的SLC6A8突变通过改变蛋白相互作用来减少肌酸的摄取,从而提供了对CCDS病理学和潜在治疗方法的见解.

关键词:
在 SLC6A8A8 中.大脑肌酸缺乏综合征大脑肌酸缺乏综合征创造蛋白是一种创造性蛋白.肌酸运输体是什么? 肌酸运输体是什么?

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