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
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
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
Identification of a buried β-strand as a novel disease-related motif in the human polysialyltransferases.
Hatanaka R et al.
The Journal of Biological Chemistry, 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
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
Indellicato R et al.
International Journal of Molecular Sciences, 2019
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
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Select a paper to view details