Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG)

Abstract MAN1B1‐CDG is a multisystem disorder caused by mutations in MAN1B1, encoding the endoplasmic reticulum mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase. A defect leads to dysfunction within the degradation of misfolded glycoproteins. We present two additional patients with MAN1B1‐CDG and a r...

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Hlavní autoři:	Lisa Kemme, Marianne Grüneberg, Janine Reunert, Stephan Rust, Julien Park, Cordula Westermann, Yoshinao Wada, Oliver Schwartz, Thorsten Marquardt
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2021-07-01
Edice:	JIMD Reports
Témata:	MAN1B1‐CDG disulfiram
On-line přístup:	https://doi.org/10.1002/jmd2.12213
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