Anencephaly and other neural tube defects
May. 31, 2023
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Monoamine oxidase enzyme with serotonin (SRO) docked in the active site (shown in inset on the left) and reacting with the flavin adenine dinucleotide (FAD) cofactor. The locations of the mutated residues of two mutation variants (R45W and E446K) are marked with red squares. In R45W, an arginine amino acid from the wild-type enzyme (WT) is replaced by tryptophan, whereas in E446K glutamate is replaced by lysine. (Source: Prah A, Pregeljc D, Stare J, Mavri J. Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction. Sci Rep 2022;12:21889. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)