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Article

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

Chembiochem : a European journal of chemical biology - 4 Jul 2017

Kreuzmann Denise, Horstkorte Rüdiger, Kohla Guido, Kannicht Christoph, Bennmann Dorit, Thate Annett, Bork Kaya

Abstract excerpt

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. Sialuria is characterized by overproduction of free sialic acid in the cell cytoplasm. Patients exhibit vastly increased urinary excretion of sialic acid and show differently...

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Identifiers

PMID: 27966821
DOI: 10.1002/cbic.201600580

Genes

GNE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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