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Certain pathogenic PDHA1 variants impacting E1 regions that are either not directly participating in thiamine pyrophosphate binding or have low affinity for thiamine pyrophosphate are considered thiamine-responsive (Table 3) (49

Cell medium was replaced on the day of transfection with serum-free medium and transfection was performed using X-tremeGENE 9 DNA Transfection Reagent (Sigma-Aldrich) and a mixture containing 0.5 g of each reporter plasmid and 5 ng of pRL-TK

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Platelet-activating factor (PAF) receptor and genetically engineered PAF receptor mutant mice