Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish

Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish

Abstract Background Congenital disorders of glycosylation are a rare group of disorders characterized by impaired glycosylation, wherein STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex, which is crucial for protein N-glycosylation. Previous studies have reported that STT...

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Bibliographic Details
Main Authors: Linxue Meng, Zhixu Fang, Li Jiang, Yinglan Zheng, Siqi Hong, Yu Deng, Lingling Xie
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
STT3A gene
Congenital glycosylation disorders
Dominant inheritance
Zebrafish
Phenotype
Online Access:https://doi.org/10.1186/s13023-025-03557-y
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https://doi.org/10.1186/s13023-025-03557-y

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