Associated Papers
Specific Detection of Sialyltransferase ST3GAL3 Towards Lipid Acceptors by Liquid Chromatography Coupled with Tandem Mass Spectrometry Indicates Total Loss of Enzyme Activity in ST3GAL3 Pathogenic Variants.
Penati S et al.
Biomedicines, 2026
When ganglioside pathways go awry: congenital disorders and experimental insights.
Inamori KI et al.
Journal of Human Genetics, 2025
Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene.
Hu J et al.
Molecular Genetics & Genomic Medicine, 2024
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Whitney R et al.
Epilepsia Open, 2023
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
Indellicato R et al.
Glycobiology, 2020
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.
van Diepen L et al.
European Journal of Human Genetics : Ejhg, 2018
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
ST3GAL3 mutations impair the development of higher cognitive functions.
Hu H et al.
American Journal of Human Genetics, 2011
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