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Image Search Results
Journal: ACS Chemical Biology
Article Title: Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency
doi: 10.1021/acschembio.4c00571
Figure Lengend Snippet: Characterization of SLC6A8 variants by trafficking and transport activity. (A) Schematic of assays developed to identify correctors of SLC6A8 with a trafficking assay to measure surface localization of SLC6A8 and a transport assay to measure creatine transport through SLC6A8 into the cell. (B,C) Trafficking assay measuring surface localized SLC6A8 and intracellular creatine levels detected by RapidFire mass spectrometry of SLC6A8 variants following transient transfection in the PathHunter MEM-EA U-2 OS cells lacking endogenous SLC6A8 (values represent means normalized to wildtype SLC6A8 calculated from n = 2 technical replicates with standard deviation). (D) Correlation between surface localization and residual creatine transport of SLC6A8 variants profiled in (B,C). (E) Residual creatine transport in knock-in variants (values represent mean SLC6A8 knock-in variant as a percentage of wildtype SLC6A8 calculated from n = 3 technical replicates with standard deviation).
Article Snippet: Luminescence indicative of SLC6A8 CTD mutant cell surface localization was measured according to the manufacturer’s protocol using the
Techniques: Activity Assay, Transport Assay, Mass Spectrometry, Transfection, Standard Deviation, Knock-In, Variant Assay