ArticleMolecular genetics and metabolism2007
G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking.
Article in Molecular genetics and metabolism, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- The molecular mechanism of sialic acid transport mediated by Sialin.Science advances · 2023Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
- Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.JIMD reports · 2014Article
- Are vesicular neurotransmitter transporters potential treatment targets for temporal lobe epilepsy?Frontiers in cellular neuroscience · 2013Review
- Article
- Structure-function studies of the SLC17 transporter sialin identify crucial residues and substrate-induced conformational changes.The Journal of biological chemistry · 2010Article
- The lysosomal sialic acid transporter sialin is required for normal CNS myelination.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Two disease-associated missense mutations in the sialin gene (G328E and G409E) have recently been identified in patients with lysosomal free sialic acid storage disease. We have assessed the effect of these mutations and find complete loss of measurable transport activity with both and impaired trafficking of the G409E protein. These results suggest that the two residues are important for proper function of sialin and confirm the association of loss of transport with disease causative mutations.
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Registered trials
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