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. Author manuscript; available in PMC: 2013 Nov 1.
Published in final edited form as: Hum Mutat. 2012 Jul 16;33(11):1589–1598. doi: 10.1002/humu.22139

Figure 4.

Figure 4

Effects of FKBP10 mutation on collagen and collagen chaperone levels. A: Western blots of FKBP10-null fibroblast lysates confirm the absence of FKBP65 protein, and demonstrate normal levels of type I procollagen (COL1A1) and the collagen chaperones HSP47, CRTAP, P3H1, and CyPB (See also Table 2). B: Immunofluorescence staining of control fibroblasts shows FKBP65 is localized to the ER. Collagen antibody staining revealed a similar pattern in proband and control, with absence of collagen aggregation in the proband samples. C: Immunofluorescence of control fibroblasts shows more structured Golgi (Golgin-97) with increased overlap with type I collagen (COL1A1), as reflected by the yellow color in the overlay panel. Proband fibroblasts showed less overlap of collagen with the Golgi, and the Golgi appeared more fragmented or condensed (see inset). Scale bars on inset = 10 μm.