Title : Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.

Pub. Date : 2017 Jul 4

PMID : 27966821






1 Functional Relationships(s)
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1 Sialuria is a rare autosomal dominant disorder of mammalian metabolism, caused by defective feedback inhibition of the UDP-N-acetylglucosamine-2-epimerase N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Homo sapiens