Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and fun...
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
About this item
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Author / Creator
Meng, Linxue , Fang, Zhixu , Jiang, Li , Zheng, Yinglan , Hong, Siqi , Deng, Yu and Xie, Lingling
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 STT3A-CDG is caused by autosomal recessive inheritance. However, in this...
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Full title
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish
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Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_52119f011beb479981021568011e9ba2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_52119f011beb479981021568011e9ba2
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-025-03557-y
