Figure 1 | Scientific Reports

Figure 1

From: Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease

Figure 1

GAA transcript and GAA protein expression and activity of nine Pompe patients compared to two healthy control fibroblasts. (a) RT-PCR products of GAA transcript amplified from exon 1 to 5, and qPCR analysis of GAA transcript with full-length exon 2 using RNA isolated from fibroblasts derived from patients (C 1, C 2, WM 1, WM 2, WM 4, WM 5, WM 7, WM 8 and WM 9) and two healthy individuals (H 1 and H 2). The qPCR analysis was performed as the relative expression of GAA transcript compared to TBP transcript, encoding TATA-box binding protein, and is presented as the mean fold change ±SDs of triplicates compared to H 1 (healthy 1). SV2/3; splice variant 2/3. −; no template control. (b) GAA activity (mean ± SDs of at least three biological replicates) and protein found in nine patients and two healthy individuals derived fibroblasts. β tub; beta-tubulin, β act; beta-actin. The densitometric analysis of the western blot is shown as a bar graph below the Western image. The gels were cropped for presentation, and full-size gels are presented in Supplementary Fig. S5.

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