| First Author | Schneider A | Year | 2011 |
| Journal | Nat Med | Volume | 18 |
| Issue | 1 | Pages | 71-3 |
| PubMed ID | 22157680 | Mgi Jnum | J:180794 |
| Mgi Id | MGI:5307218 | Doi | 10.1038/nm.2548 |
| Citation | Schneider A, et al. (2012) Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med 18(1):71-3 |
| abstractText | Congenital disorder of glycosylation-Ia (CDG-Ia, also known as PMM2-CDG) is caused by mutations in the gene that encodes phosphomannomutase 2 (PMM2, EC 5.4.2.8) leading to a multisystemic disease with severe psychomotor and mental retardation. In a hypomorphic Pmm2 mouse model, we were able to overcome embryonic lethality by feeding mannose to pregnant dams. The results underline the essential role of glycosylation in embryonic development and may open new treatment options for this disease. |
