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由SLC6A8突变引起的肌酸缺乏对纤维细胞细胞功能的影响

Shingo Ito1,2, Tatsuki Uemura3,4, Ayaka Miyano3

  • 1Department of Pharmaceutical Microbiology, Faculty of Life Sciences, Kumamoto University, 5-1 Oe-honmachi, Chuo-ku, Kumamoto, 862-0973, Japan. ishingo@kumamoto-u.ac.jp.

Scientific reports
|July 23, 2025
PubMed
概括

肌酸转运体缺乏症 (CTD) 会导致严重的细胞肌酸耗尽. 这项研究揭示了G561R突变损害能量代谢和线粒体功能,提供了对CTD病原学的见解.

关键词:
产生ATP生产ATP.肌酸转运器是肌酸转运器.细胞外囊泡中的细胞外囊泡.纤维母细胞细胞是如何形成的线粒体功能 线粒体功能在 SLC6A8A8 中.

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