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

Anette Schneider | Zendy; Christian Thiel | Zendy; Jan Rindermann | Zendy; Charles DeRossi | Zendy; Iuliana Marin | Zendy; Georg F. Hoffmann | Zendy; Hermann Josef Gröne | Zendy; Christian Körner | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

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

Author(s) -

Anette Schneider,

Christian Thiel,

Jan Rindermann,

Charles DeRossi,

Iuliana Marin,

Georg F. Hoffmann,

Hermann Josef Gröne,

Christian Körner

Publication year - 2011

Publication title -

nature medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.536

H-Index - 547

eISSN - 1546-170X

pISSN - 1078-8956

DOI - 10.1038/nm.2548

Subject(s) - glycosylation , disease , mannose , psychomotor learning , congenital disorder , glycoprotein , psychomotor retardation , medicine , immunology , biology , genetics , psychiatry , pathology , biochemistry , cognition , alternative medicine

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research