Associated Papers
When ganglioside pathways go awry: congenital disorders and experimental insights.
Inamori KI et al.
Journal of Human Genetics, 2025
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.
Mu D et al.
Orphanet Journal of Rare Diseases, 2024
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Dookwah M et al.
Human Molecular Genetics, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency.
Rudy N et al.
Jimd Reports, 2023
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