Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice |
| |
| Authors: | Schneider Anette Thiel Christian Rindermann Jan DeRossi Charles Popovici Diana Hoffmann Georg F Gröne Hermann-Josef Körner Christian |
| |
| Institution: | Center for Child and Adolescent Medicine and Center for Metabolic Diseases Heidelberg, Department Kinderheilkunde I, Heidelberg, Germany. |
| |
| Abstract: | 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. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
