Article
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Nature communications - 28 Oct 2021
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, van den Bogaart Geert
Abstract excerpt
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, we identify a human disorder caused by a single missense substitution in...
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