Fig 1: Pantothenate and L-carnitine supplementation improves protein expression levels in mutant KAT6A fibroblasts. Control (C) and mutant P1 and P3 fibroblasts (P1 and P3) were treated with 0.7 µM pantothenate and 0.7 µM L-carnitine for 15 days (C+, P1+ and P3+), while Control (C) and P2 fibroblasts (P2) were treated with 0.4 µM pantothenate and 0.4 µM L-carnitine for 15 days (C+ and P2+). Immunoblotting analysis of cellular extracts from Control and P1 fibroblasts (A), P2 fibroblasts (B), and P3 fibroblasts (C). Protein extracts were separated on an SDS polyacrylamide gel (12.5%) and immunostained with antibodies against KAT6A protein, SIRT1, SIRT3, NAMPT1, Mt-ND6, NDUFA9, PANK2, mtACP, lipoic acid (lipoylated PDH and lipoylated KGDH), SOD1, GPX4, and actin. A representative actin band is shown, although loading control was additionally checked for every Western blot. Data represent the mean ± SD of three separate experiments. Protein band densitometry is shown in Supplementary Figures S7 and S8.
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