Functional characterization of wild-type and mutant human sialin.

  title={Functional characterization of wild-type and mutant human sialin.},
  author={Pierre Morin and Corinne Sagn{\'e} and Bruno Gasnier},
  journal={The EMBO journal},
  volume={23 23},
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 Salla disease. To develop a functional assay of human sialin, we redirected the… CONTINUE READING


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