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Journal: bioRxiv
Article Title: Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam
doi: 10.1101/2025.06.03.657600
Figure Lengend Snippet: (A) Schematic representation of the Risdiplam treatment. (B) Representative immunoblots for SMN in untreated (U) and Risdiplam-treated (R) patient-derived fibroblasts from 3 technical replicates of one paediatric patient and one healthy donor. The internal standard (Int. std.) is used to compare protein signal across different membranes. Each blot is accompanied by a corresponding total protein stain (lower panel). (C) Representative immunoblots for COL1A1 in untreated (U) and Risdiplam-treated (R) patient-derived fibroblasts from paediatric healthy donors, and paediatric and adult SMA patients. The internal standard (Int. std.) is used to compare protein signal across different membranes. Each blot is accompanied by a corresponding total protein stain (lower panel). (D) Quantification of SMN protein level of Risdiplam-treated (R) relative to the untreated (U) fibroblasts. Protein levels were normalized for total protein stain and internal standard. Data are mean ± s.e.m. among n = 3 technical independent replicates. Significant changes were assessed using unpaired two-sided Student’s t-test, with Holm correction of p-values. * p-val<0.05, ** p-val<0.01, *** p-val<0.001, and **** p-val<0.0001. (E) Quantification of COL1A1 protein level of Risdiplam-treated (R) relative to the untreated (U) fibroblasts. Protein levels were normalized for total protein stain and internal standard. Data are mean ± s.e.m. among n = 3 technical independent replicates. Significant changes were assessed using unpaired two-sided Student’s t-test, with Holm correction of p-values. * p-val<0.05, ** p-val<0.01, *** p-val<0.001, and **** p-val<0.0001.
Article Snippet: For
Techniques: Western Blot, Derivative Assay, Staining