ArticleThe EMBO journal2004
Functional characterization of wild-type and mutant human sialin.
Article in The EMBO journal, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 117 citations in OpenAlex.
- Protonation-dependent substrate release in a bacterial homolog of vesicular glutamate.Biophysical journal · 2026Article
- Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Journal of inherited metabolic disease · 2026Article
- A host-derived volatile primes context-dependent foraging behavior in parasitic nematodes via a lysosome-associated neural pathway.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.Molecular genetics and metabolism reports · 2025Review
- Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.Molecular genetics and metabolism reports · 2025Article
- Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism.Scientific reports · 2025Article
- Substrate recognition and allosteric regulation of synaptic vesicle glutamate transporter VGLUT2.Nature structural & molecular biology · 2025Article
- Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.JIMD reports · 2025Article
- Lack of significant ganglioside changes inBiochemistry and biophysics reports · 2025Article
- Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model.microPublication biology · 2025Article
- Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder.Rare (Amsterdam, Netherlands) · 2025Article
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.Molecular genetics and metabolism · 2025Article
- Transport mechanism of DgoT, a bacterial homolog of SLC17 organic anion transporters.The EMBO journal · 2024Article
- MFSD1 with its accessory subunit GLMP functions as a general dipeptide uniporter in lysosomes.Nature cell biology · 2024Article
- Structure and inhibition of the human lysosomal transporter Sialin.Nature communications · 2024Article
- Genetic differentiation and local adaptation of the Japanese honeybee,Ecology and evolution · 2023Article
- Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an HLife science alliance · 2023Article
- The molecular mechanism of sialic acid transport mediated by Sialin.Science advances · 2023Article
- Article
- Spns1 is a lysophospholipid transporter mediating lysosomal phospholipid salvage.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 protein to the plasma membrane by mutating a dileucine-based internalization motif. Cells expressing the plasmalemmal construct accumulated neuraminic acid at acidic pH by a process equivalent to lysosomal efflux. The assay was used to determine how pathogenic mutations affect transport. Interestingly, while two missense mutations and one small, in-frame deletion associated with ISSD abolished transport, the mutation causing Salla disease (R39C) slowed down, but did not stop, the transport cycle, thus explaining why the latter disorder is less severe. Since neurological symptoms predominate in Salla disease, our results suggest that sialin is rate-limiting to specific sialic acid-dependent processes of the nervous system.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.