Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts

Abstract Creatine transporter deficiency (CTD) caused by mutations in SLC6A8 encoding the creatine transporter (CRT), leads to cerebral creatine deficiency syndromes; however, the cellular impact of CRT loss remains unclear. In this study, we investigated the consequences of the G561R mutation by ex...

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Bibliographic Details
Main Authors: Shingo Ito, Tatsuki Uemura, Ayaka Miyano, Hiroko Shimbo, Takeshi Masuda, Tomohide Goto, Hitoshi Osaka, Takahito Wada, Sumio Ohtsuki
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
ATP production
Creatine transporter
Extracellular vesicles
Fibroblast
Mitochondrial function
SLC6A8
Online Access:https://doi.org/10.1038/s41598-025-11386-z
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https://doi.org/10.1038/s41598-025-11386-z

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