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

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...

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Dettagli Bibliografici
Pubblicato in:JIMD Rep
Autori principali: Kemme, Lisa, Grüneberg, Marianne, Reunert, Janine, Rust, Stephan, Park, Julien, Westermann, Cordula, Wada, Yoshinao, Schwartz, Oliver, Marquardt, Thorsten
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2021
Soggetti:
Research Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260486/
https://ncbi.nlm.nih.gov/pubmed/34258140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12213
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