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All procedures were conducted in accordance with the local legislation and institutional requirements

About 13% of the variants deposited in the CBS Mutation Database [22] are genomic deletions, frameshift mutations, premature termination codons, or missplicing variants, some of which affect CBS mRNA stability via nonsense-mediated decay (NMD) [30], while others affect protein folding or biochemical function

According to protein structure predictions 23 , they also adopt the thioredoxin fold, which puts the putative active site, a CCMC/S or CCLC/S motif, at the beginning of helix 1 (shown exemplarily for ROXY9 in Fig

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SmTGR Y296A was mixed with a range of NADPH concentrations and the reaction was monitored at 455 and 540 nm (Figures 7A,B)