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.
journal_name
Nat Medjournal_title
Nature medicineauthors
Schneider A,Thiel C,Rindermann J,DeRossi C,Popovici D,Hoffmann GF,Gröne HJ,Körner Cdoi
10.1038/nm.2548subject
Has Abstractpub_date
2011-12-11 00:00:00pages
71-3issue
1eissn
1078-8956issn
1546-170Xpii
nm.2548journal_volume
18pub_type
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