Fig. 6

SLC10A7 deficiency leads to defective GAG and enhanced Ca²⁺ intake. a, b Total sulfated GAGs and heparan sulfates (HS) were quantified according to the DMMB procedure in extracts of SLC10A7-deficient patient fibroblasts and control fibroblasts (n = 3) (a) or in cartilage extracts from 10-day-old Slc10a7^−/− or Slc10a7^+/+ mice (n = 5) (b). Proportions of HS are expressed as a percentage of total sulfated GAGs (% HS). c Immunohistofluorescence for HS (red) or CS (red) counterstained with DAPI (blue) on distal femurs of newborn Slc10a7^+/+ and Slc10a7^−/− mice (n = 5 mice). Arrows indicate more intense CS staining at the close proximity of chondrocytes. Scale bars = 100 μm. Graphs show red fluorescent signal intensity in the growth plate for each marker. a.u., arbitrary unit. Data are expressed as mean ± SD. NS, nonsignificant; **p ≤ 0.01 (two-tailed t-test). d A representative recording of intracellular free Ca²⁺ in SLC10A7-deficient patients fibroblasts and control fibroblasts (n = 3). Fibroblasts were loaded with Fluo-4-AM and preincubated in calcium-free buffer for 30 min before addition of 20 μM CaCl₂. Data are presented as mean ± SEM, *p ≤ 0.05; **p ≤ 0.0.1 (two-tailed t-test)