Figure 6 | Scientific Reports

Figure 6

From: Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration

Figure 6

Functional analysis of AIPL1 variants. (a) Interaction of AIPL1 variants with HSP90. Quantitative ELISA analysis of the interaction between wild-type (w/t) AIPL1 or the AIPL1 variants indicated with purified human recombinant HSP90α and HSP90β. The absorbance of each interaction was normalized to the expression level detected by western-blotting and plotted relative to w/t AIPL1 = 1.0. (b) Heterologous rod PDE6 activity in the presence of the AIPL1 variants. Quantitative analysis of the cGMP concentration from cells expressing the PDE6 holoenzyme (α, β and γ) alone, and in the presence of w/t AIPL1 or AIPL1 variants as indicated. Independent assays were performed three or more times with samples analysed in triplicate in each assay. All AIPL1 variants showed statistically significant differences (p ≤ 0.01) with respect to w/t AIPL1 with the exception of the variants demarcated by NS (p > 0.01).

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