Figure 2.

Functional characterization of SLC6A6 activity from patient-derived fibroblasts. (A) Specific taurine saturation uptake analysis in patient-derived fibroblasts. Fibroblasts of affected individuals IV:1 (filled circle), IV:3(open circle) and parents III:3 (closed square) and III:4 (open square) were incubated with [³H] taurine concentrations from 0.05 to 250 μM for 10 min. Non-specific counts were determined by inhibition of SLC6A6 with β-alanine (25 mM) and subtracted from total counts. (B) Western Blot detection of SLC6A6 in the plasma membrane from patient-derived fibroblasts. Surface protein was purified through biotinylation with a cell impermeant crosslinker and detected using anti-SLC6A6 antibody. (C) Percent surface expression was calculated from band densitometry for each sample and normalized to TFRC and plotted. ^*P < 0.05.