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Article

Functional characterization of wild-type and mutant human sialin.

The EMBO journal - 24 Nov 2004

Morin Pierre, Sagné Corinne, Gasnier Bruno

Abstract excerpt

The modification of cell surface lipids or proteins with sialic acid is essential for many biological processes and several diseases are caused by defective sialic acid metabolism. Sialic acids cleaved off from degraded sialoglycoconjugates are exported from lysosomes by a membrane transporter, named sialin, which is defective in two allelic inherited diseases: infantile sialic acid storage disease (ISSD) and...

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Identifiers

PMID: 15510212
DOI: 10.1038/sj.emboj.7600464
PMCID: PMC533050

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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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