Disease mechanisms associated with mutations of the GNE gene
Author:
Publisher
Elsevier BV
Subject
Drug Discovery,Molecular Medicine
Reference43 articles.
1. A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase;Hinderlich;J. Biol. Chem.,1997
2. Sialic acid metabolism in sialuria fibroblasts;Seppala;J. Biol. Chem.,1991
3. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat. Genet.,2001
4. Sialic acids as ligands in recognition phenomena;Varki;FASEB J.,1997
5. Sialylation is essential for early development in mice;Schwarzkopf;Proc. Natl. Acad. Sci. U S A,2002
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