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- W3138697855 abstract "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 resulting defect in endoplasmic reticulum‐associated protein degradation. One patient (P2) is carrying the previously undescribed p.E663K mutation. A therapeutic trial in patient 1 (P1) using disulfiram with the rationale to generate an attenuation of translation and thus a balanced, restored ER glycoprotein synthesis failed. No improvement of the transferrin glycosylation profile was seen." @default.
- W3138697855 created "2021-03-29" @default.
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- W3138697855 date "2021-03-20" @default.
- W3138697855 modified "2023-10-17" @default.
- W3138697855 title "Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase<scp>‐</scp>congenital disorders of glycosylation (MAN1B1‐CDG)" @default.
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- W3138697855 doi "https://doi.org/10.1002/jmd2.12213" @default.
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