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. Author manuscript; available in PMC: 2022 Jan 1.
Published in final edited form as: Mol Genet Metab. 2020 Oct 17;132(1):27–37. doi: 10.1016/j.ymgme.2020.10.007

Figure 5.

Figure 5.

Western blot and RT-qPCR analysis. Fibroblasts from the patient showed decreased DPM2 expression compared to 2 healthy controls by Western blot (A). In addition, no quantifiable DPM1 protein expression was detected (B, note DPM1 expression is dependent on normal DPM2 and DPM3 expression). The patient’s fibroblasts also revealed a significant decrease in ICAM1 protein expression, suggesting abnormal N-linked glycosylation (C). Fibroblast from the patient show decreased LAMP2 expression compared to the healthy control (D, E). Fibroblasts from the patient present with a decreased expression of ICAM1 compared to the healthy controls (n=3) (F).