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A missense variant remote from the active site impairs stability of human phosphoglucomutase 1

J Inherit Metab Dis. 2020; 
Stiers KM, Hansen RP, Daghlas BA, Mason KN, Zhu JS, Jakeman DL, Beamer LJ.
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Molecular Biology Reagents … database (Lek et al 2016) The variant was engineered by Genscript in the previously synthesized pET14b expression vector for WT PGM1 Protein expression and purification was performed as previously described (Lee et al 2014) Steady state kinetics … Get A Quote

摘要

Missense variants of human phosphoglucomutase 1 (PGM1) cause the inherited metabolic disease known as PGM1 deficiency. This condition is categorised as both a glycogen storage disease and a congenital disorder of glycosylation. Approximately 20 missense variants of PGM1 are linked to PGM1 deficiency, and biochemical studies have suggested that they fall into two general categories: those affecting the active site and catalytic efficiency, and those that appear to impair protein folding and/or stability. In this study, we characterise a novel variant of Arg422, a residue distal from the active site of PGM1 and the site of a previously identified disease-related variant (Arg422Trp). In prior studies, the R422W va... More

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