1. Recovery of E1 activity in E1 variants carrying type IA MSUD mutations as a function of increasing TMAO concentrations. Y368C-α (▪), F364C-α (•), and Y393N-α (◊) mutant E1 at 0.2 mg/ml were incubated with different concentrations of TMAO at 23° C for 16 hours. After centrifugation at 12,000 rpm at 4° C for 10 minutes, aliquots were taken from the supernatant for radiochemical E1 activity assay and protein concentration determination. Specific activity was calculated for each sample and expressed as a percentage of the specific activity of wild-type E1.
Source: Maple Syrup Urine Disease (Branched-Chain Ketoaciduria), The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: December 17, 2017
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