Article
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.
The Journal of biological chemistry - 11 Nov 2011
Sharma Vandana, Ichikawa Mie, He Ping, Scott David A, Bravo Yalda, Dahl Russell, Ng Bobby G, Cosford Nicholas D P, Freeze Hudson H
Abstract excerpt
Congenital disorders of glycosylation (CDG) are rare genetic disorders due to impaired glycosylation. The patients with subtypes CDG-Ia and CDG-Ib have mutations in the genes encoding phosphomannomutase 2 (PMM2) and phosphomannose isomerase (MPI or PMI), respectively. PMM2 (mannose 6-phosphate →...
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