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Article

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

Molecular genetics and metabolism - 1 Jan 2000

Aula Nina, Jalanko Anu, Aula Pertti, Peltonen Leena

Abstract excerpt

Salla disease (SD) and infantile sialic acid storage disease (ISSD) are recessively inherited, neuro-degenerative disorders caused by mutations in the SLC17A5 gene. The gene product, sialin, is a lysosomal membrane protein which transports free sialic acid across the membrane. Although the function of sialin is basically known, the details of biosynthesis and intracellular trafficking as well as functional...

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PMID: 12359136
DOI: 10.1016/s1096-7192(02)00124-5

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Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.PMID 12359136Read ↗

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