Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability
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DOI: 10.1155/2023/5964723
Abstract: Congenital disorders of glycosylation (CDG) are severe metabolic disorders caused by an imbalance in the glycosylation pathway. Phosphomannomutase2 (PMM2-CDG), the most prevalent CDG, is mainly due to the disorder of PMM2. Pathogenic variants in cysteine… read more here.
Keywords: pathogenic variants; pmm2; pmm2 sensitive; environmental stress ... See more keywords