Rescue of secretion of rare‐disease‐associated misfolded mutant glycoproteins in UGGT1 knock‐out mammalian cells
Gabor Tax,
Kevin P. Guay,
Ludovica Pantalone
et al.
Abstract:Endoplasmic reticulum (ER) retention of misfolded glycoproteins is mediated by the ER‐localized eukaryotic glycoprotein secretion checkpoint, UDP‐glucose glycoprotein glucosyl‐transferase (UGGT). The enzyme recognizes a misfolded glycoprotein and flags it for ER retention by re‐glucosylating one of its N‐linked glycans. In the background of a congenital mutation in a secreted glycoprotein gene, UGGT‐mediated ER retention can cause rare disease, even if the mutant glycoprotein retains activity (“responsive muta… Show more
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