Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.
Falkenstein K et al.
Human Mutation, 2025
An interaction between SLC35A1 and ST3Gal4 is differentially affected by CDG-causing mutations in the SLC35A1 gene.
Wiertelak W et al.
Biochemical and Biophysical Research Communications, 2022
Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter.
Szulc B et al.
International Journal of Molecular Sciences, 2020
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Ng BG et al.
American Journal of Medical Genetics. Part A, 2017
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