Associated Papers
Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.
Ito S et al.
Scientific Reports, 2025
ProteoMutaMetrics: machine learning approaches for solute carrier family 6 mutation pathogenicity prediction.
Huang J et al.
Rsc Advances, 2024
Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E et al.
Journal of Molecular Biology, 2024
Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes.
Jomura R et al.
Biological & Pharmaceutical Bulletin, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
37587458 (PubMed )
Supplement: 12864_2023_9561_MOESM1_ESM.xlsx › CuratedVariants
Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.
Yoldaş TÇ et al.
The Turkish Journal of Pediatrics, 2021
Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts.
Uemura T et al.
Pharmaceutical Research, 2020
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A et al.
Neuropharmacology, 2019
[Elucidation of Disease Mechanisms Based on Transport Function at Tissue Barriers and Challenges in Drug Development].
Ito S
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2019
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization.
Uemura T et al.
Biological & Pharmaceutical Bulletin, 2017
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Kato H et al.
Brain & Development, 2014
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