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

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

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 n...

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Bibliographic Details
Main Authors: Natalia Yarovaya, Rachel Schot, Lisa Fodero, Michelle McMahon, Alexis Mahoney, Rachael Williams, Elly Verbeek, An de Bondt, Mark Hampson, Peter van der Spek, Andrew Stubbs, Colin L. Masters, Frans W. Verheijen, Grazia M.S. Mancini, Deon J. Venter
Format: Article
Language:English
Published: Elsevier 2005-08-01
Series:Neurobiology of Disease
Subjects:
Salla disease
Infantile sialic acid storage disease
Lysosomal storage diseases
Central nervous system
Immunohistochemistry
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996104003250

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http://www.sciencedirect.com/science/article/pii/S0969996104003250

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