Journal article

Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated

N Yarovaya, R Schot, L Fodero, M McMahon, A Mahoney, R Williams, E Verbeek, A de Bondt, M Hampson, P van der Spek, A Stubbs, CL Masters, FW Verheijen, GMS Mancini, DJ Venter

Neurobiology of Disease | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2005


Sialin is a lysosomal membrane protein encoded by the SLC17A5 gene, which is mutated in patients with sialic acid storage diseases (SASD). To further understand the role of sialin in normal CNS development and in the progressive neuronal atrophy and dysmyelination seen in SASD, we investigated its normal cellular distribution in adult and developing mice. Overall, sialin showed granular immunoreactivity, consistent with a vesicular protein. Adult mice showed widespread sialin expression, including in the brain, heart, lung, and liver. High-level immunoreactivity was seen in the neuropil of the hippocampus, striatum, and cerebral cortex, as well as in the perikarya of cerebellar Purkinje cell..

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