Fig 1: RINT1 mutations alter NRZ complex.(A) Control (CTL) and patient (P1 and P3) fibroblasts were subjected to immunoblot analysis using the anti-RINT1, anti-ZW10, and anti-NBAS antibodies. The total amount of α-tubulin (α-tub) was used as a loading control. Blots run in parallel using identical samples are shown. (B) Quantification of RINT1, ZW10, and NBAS protein levels in patient fibroblasts (P1 and P3) relative to the controls (CTL, n = 6). (C–F) Representative confocal images of control (CTL) and patient (P1 and P3) fibroblasts stained with the anti-Calnexin and anti-RINT1 antibodies (C) or the anti-Calnexin and anti-ZW10 antibodies (E). Scale bars: 10 μm. A zoomed-in view is shown for each image with a scale bar of 2 μm. (D and F) Colocalization between RINT1 (D), ZW10 (F), and Calnexin is expressed as Pearson’s coefficient measured for individual cells. n > 20 cells for each genotype. Patient (P1 and P3) and control (CTL, n = 3) fibroblasts. All data are shown as the mean ± SD. Results were obtained from 2 independent experiments. *P < 0.05, **P < 0.01, ***P < 0.001. All data analysis were performed using 1-way ANOVA followed by Tukey’s test for multiple comparisons.