ArticleMolecular genetics and metabolism reports2020
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Clinical Outcomes and Management in Late Diagnosed Siblings Affected With Attenuated GSD Ib.JIMD reports · 2026Article
- Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.Nature communications · 2025Article
- SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy.Clinica chimica acta; international journal of clinical chemistry · 2021Article
- A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.American journal of human genetics · 2021Article
- SLC37A4-CDG: Second patient.JIMD reports · 2021Article
- Novel Insights into Selected Disease-Causing Mutations within theInternational journal of molecular sciences · 2020Article
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Authors and funding
11 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loss-of-function of the glucose-6-phosphate transporter is caused by biallelic mutations in SLC37A4 and leads to glycogen storage disease Ib. Here we describe a second disease caused by a single dominant mutation in the same gene. The mutation abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter leads to a congenital disorder of glycosylation instead of glycogen storage disease.
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