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Your search keyword '"Oliver, Schwartz"' showing total 2 results
Start Over Author "Oliver, Schwartz" Journal jimd reports
2 results on '"Oliver, Schwartz"'

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

Author

Lisa Kemme, Marianne Grüneberg, Janine Reunert, Stephan Rust, Julien Park, Cordula Westermann, Yoshinao Wada, Oliver Schwartz, and Thorsten Marquardt

Subjects
MAN1B1‐CDG, disulfiram, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
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.

Published
2021
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2. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG)

Author

Lisa, Kemme, Marianne, Grüneberg, Janine, Reunert, Stephan, Rust, Julien, Park, Cordula, Westermann, Yoshinao, Wada, Oliver, Schwartz, and Thorsten, Marquardt

Subjects
Research Report, MAN1B1‐CDG, disulfiram, Research Reports
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.

Published
2020

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