Phosphomannose Isomerase Inhibitors Improve N-Glycosylation in Selected Phosphomannomutase-deficient Fibroblasts

Congenital disorders of glycosylation (CDG) are rare genetic disorders due to impaired glycosylation. The patients with subtypes CDG-Ia and CDG-Ib have mutations in the genes encoding phosphomannomutase 2 (PMM2) and phosphomannose isomerase (MPI or PMI), respectively. PMM2 (mannose 6-phosphate → man...

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Autores principales: Sharma, Vandana, Ichikawa, Mie, He, Ping, Bravo, Yalda, Dahl, Russell, Ng, Bobby G., Cosford, Nicholas D. P., Freeze, Hudson H.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2011
Materias:
Glycobiology and Extracellular Matrices
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234766/
https://ncbi.nlm.nih.gov/pubmed/21949237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.285502
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