Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
CDG due to Defective Membrane Transporters: Update.
Quelhas D et al.
Journal of Inherited Metabolic Disease, 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
Structure-Function Relationships of the CMP-Sialic Acid Transporter through Analysis of a Pathogenic Variant in an Alternatively Spliced Functional Isoform.
Velázquez-Dodge BI et al.
Acs Omega, 2024
Delivery of Nucleotide Sugars to the Mammalian Golgi: A Very Well (un)Explained Story.
Maszczak-Seneczko D et al.
International Journal of Molecular Sciences, 2022
A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
Li D et al.
The Journal of Biological Chemistry, 2021
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
A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Kauskot A et al.
Haematologica, 2018
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.
Ng BG et al.
American Journal of Medical Genetics. Part A, 2017
A functional splice variant of the human Golgi CMP-sialic acid transporter.
Salinas-Marín R et al.
Glycoconjugate Journal, 2016
Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.
Riemersma M et al.
Human Molecular Genetics, 2015
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.
Mohamed M et al.
Neurology, 2013
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