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The Lysosomal Sialic Acid Transporter Sialin Is Required for Normal CNS Myelination

9 Dec 2009

Abstract excerpt

Salla disease and infantile sialic acid storage disease are autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding sialin, a membrane protein that transports free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation. Accumulation of sialic acid in lysosomes defines these disorders, and the clinical phenotype is characterized by...

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PMID: 20007460
DOI: 10.1523/jneurosci.3005-09.2009

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