The UCMD-Causing COL6A1 () Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains

Figure 3

The mutant chains associated with the collagen VI network in fibroblasts from COL6A1 () patients. Patient fibroblasts (R1, US10) and control fibroblasts were incubated with ascorbic acid for five days. The α3N antibody was used to visualize the collagen VI network (a, b) and the affinity purified Pex11-α1(VI) antibody to show mutant chains (b). Nuclei were stained with DAPI (blue), scale . The mutant chains colocalize with the wild-type collagen VI network, showing their deposition in the extracellular matrix.

(a)

(b)