Article
In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.
Molecular genetics and metabolism - 1 Jan 2000
Shirakura Teppei, Krishnamoorthy Lakshmipriya, Paliwal Preeti, Hird Geoffrey, McCluskie Kerryn, McWilliams Peter, He Miao, Ismaili Moulay Hicham Alaoui
Abstract excerpt
PMM2-CDG is the most common congenital disorder of glycosylation (CDG). Patients with this disease often carry compound heterozygous mutations of the gene encoding the phosphomannomutase 2 (PMM2) enzyme. PMM2 converts mannose-6-phosphate (M6P) to mannose-1-phosphate (M1P), which is a critical upstream metabolite for proper protein N-glycosylation. Therapeutic options for PMM2-CDG patients are limited to...
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