Associated Papers
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.
Meng L et al.
Orphanet Journal of Rare Diseases, 2025
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Kas SM et al.
Scientific Reports, 2023
37848450 (PubMed )
Supplement: 41598_2023_42178_MOESM5_ESM.xlsx › OST_complex_clinvar_result
Quantitative glycoproteomics reveals new classes of STT3A- and STT3B-dependent N-glycosylation sites.
Cherepanova NA et al.
The Journal of Cell Biology, 2019
Factor VIII and vWF deficiency in STT3A-CDG.
Chang IJ et al.
Journal of Inherited Metabolic Disease, 2019
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.
Ghosh A et al.
Journal of Child Neurology, 2017
Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.
Shrimal S et al.
Seminars in Cell & Developmental Biology, 2015
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
Shrimal S et al.
Human Molecular Genetics, 2013
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