Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

Anette Schneider, Christian Thiel, Jan Rindermann, Charles Derossi, Diana Popovici, Georg F. Hoffmann, Hermann Josef Gröne, Christian Körner

Research output: Contribution to journalArticlepeer-review

69 Scopus citations

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.

Original languageEnglish
Pages (from-to)71-73
Number of pages3
JournalNature Medicine
Volume18
Issue number1
DOIs
StatePublished - Jan 2012
Externally publishedYes

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