Associated Papers
The molecular mechanism of sialic acid transport mediated by Sialin.
Hu W et al.
Science Advances, 2023
Free sialic acid storage disorder: Progress and promise.
Huizing M et al.
Neuroscience Letters, 2021
Primer on genes encoding enzymes in sialic acid metabolism in mammals.
Wickramasinghe S et al.
Biochimie, 2011
Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.
Courville P et al.
The Journal of Biological Chemistry, 2010
Molecular and cellular basis of lysosomal transmembrane protein dysfunction.
Ruivo R et al.
Biochimica Et Biophysica Acta, 2009
Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.
Ruivo R et al.
Biology of the Cell, 2008
G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking.
Myall NJ et al.
Molecular Genetics and Metabolism, 2007
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Kleta R et al.
Molecular Genetics and Metabolism, 2004
[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
Eto Y
Ryoikibetsu Shokogun Shirizu, 1998
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Yano T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
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