Associated Papers
Structure and inhibition of the human lysosomal transporter Sialin.
Schmiege P et al.
Nature Communications, 2024
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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
New insights into the pathogenicity of non-synonymous variants through multi-level analysis.
Sun H et al.
Scientific Reports, 2019
Functional characterization of vesicular excitatory amino acid transport by human sialin.
Miyaji T et al.
Journal of Neurochemistry, 2011
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
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
Landau D et al.
Molecular Genetics and Metabolism, 2004
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