ArticleAmerican journal of medical genetics. Part A2017
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Sialylation in the nervous system: Functions and mechanisms.The Journal of biological chemistry · 2026Review
- Biological Significance of C-Domain of the Vertebrate CMP-Sialic Acid Synthetases.Advances in experimental medicine and biology · 2026Article
- A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.Human mutation · 2025Review
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- Review
- Delivery of Nucleotide Sugars to the Mammalian Golgi: A Very Well (un)Explained Story.International journal of molecular sciences · 2022Review
- A point-mutation in the C-domain of CMP-sialic acid synthetase leads to lethality of medaka due to protein insolubility.Scientific reports · 2021Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
- The role of the Golgi apparatus in disease (Review).International journal of molecular medicine · 2021Review
- NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.Frontiers in neurology · 2021Article
- Novel Insights into Selected Disease-Causing Mutations within theInternational journal of molecular sciences · 2020Article
- Therapeutic Monosaccharides: Looking Back, Moving Forward.Biochemistry · 2020Review
- Platelets and Defective N-Glycosylation.International journal of molecular sciences · 2020Review
- Measuring beta-galactose exposure on platelets: Standardization and healthy reference values.Research and practice in thrombosis and haemostasis · 2020Article
- Structural basis for the delivery of activated sialic acid into Golgi for sialyation.Nature structural & molecular biology · 2019Article
- Article
- Nucleotide Sugar Transporter SLC35 Family Structure and Function.Computational and structural biotechnology journal · 2019Review
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Transport of activated nucleotide-sugars into the Golgi is critical for proper glycosylation and mutations in these transporters cause a group of rare genetic disorders termed congenital disorders of glycosylation. We performed exome sequencing on an individual with a profound neurological presentation and identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in the CMP-sialic acid transporter, SLC35A1. Patient primary fibroblasts and serum showed a considerable decrease in the amount of N- and O-glycans terminating in sialic acid. Direct measurement of CMP-sialic acid transport into the Golgi showed a substantial decrease in overall rate of transport. Here we report the identification of the third patient with CMP-sialic acid transporter deficiency, who presented with severe neurological phenotype, but without hematological abnormalities.
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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.