Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
About this item
Full title
Author / Creator
Linders, Peter T. A. , Gerretsen, Eveline C. F. , Ashikov, Angel , Vals, Mari-Anne , de Boer, Rinse , Revelo, Natalia H. , Arts, Richard , Baerenfaenger, Melissa , Zijlstra, Fokje , Huijben, Karin , Raymond, Kimiyo , Muru, Kai , Fjodorova, Olga , Pajusalu, Sander , Õunap, Katrin , ter Beest, Martin , Lefeber, Dirk and van den Bogaart, Geert
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5) is essential for Golgi transport. In humans, the
STX5
mRNA encodes two protein isoforms, Stx5 Long (Stx5L) from the first starting methionine and Stx5 Short (Stx5S) from an alternative starting methionine at position 55. In this study,...
Alternative Titles
Full title
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Authors, Artists and Contributors
Author / Creator
Gerretsen, Eveline C. F.
Ashikov, Angel
Vals, Mari-Anne
de Boer, Rinse
Revelo, Natalia H.
Arts, Richard
Baerenfaenger, Melissa
Zijlstra, Fokje
Huijben, Karin
Raymond, Kimiyo
Muru, Kai
Fjodorova, Olga
Pajusalu, Sander
Õunap, Katrin
ter Beest, Martin
Lefeber, Dirk
van den Bogaart, Geert
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a484fd5da84a4c6e8dc6c4421c08bd42
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a484fd5da84a4c6e8dc6c4421c08bd42
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-26534-y
