Article
Proteostasis regulators as potential rescuers of PMM2 activity.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jul 2020
Vilas A, Yuste-Checa P, Gallego D, Desviat L R, Ugarte M, Pérez-Cerda C, Gámez A, Pérez B
Abstract excerpt
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-glycosylation disorder. To date there is no treatment. Following the identification of a number of destabilizing pathogenic variants, our group suggested PMM2-CDG to be a conformational disease. The aim of the present study was to evaluate the possible use of proteostasis network regulators to increase the stability, and subsequently the enzymatic...
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