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Article

Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes.

Biological & pharmaceutical bulletin - 1 Jan 2024

Jomura Ryuta, Sawada Masaru, Tega Yuma, Akanuma Shin-Ichi, Tachikawa Masanori, Hosoya Ken-Ichi

Abstract excerpt

Cerebral creatine deficiency syndromes (CCDS) are neurodevelopmental disorders caused by a decrease in creatine levels in the central nervous system (CNS) due to functional mutations in creatine synthetic enzymes or creatine transporter (CRT/SLC6A8). Although SLC6A8 mutations have been reported to be the most frequent cause of CCDS, sufficient treatment for patients with CCDS harboring SLC6A8 mutations has not...

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PMID: 38233148
DOI: 10.1248/bpb.b23-00586

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