Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells

Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells

Background: A key mechanism in the neuromuscular disease GNE myopathy (GNEM) is believed to be that point mutations in the GNE gene impair sialic acid synthesis – maybe due to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) activity restrictions – and resulting in muscle tissue...

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Bibliographic Details
Main Authors: Emilia Peters, Philipp Selke, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper
Format: Article
Language:English
Published: IMR Press 2023-11-01
Series:Frontiers in Bioscience-Landmark
Subjects:
gne myopathy
mannac
gne
sialic acids
glycobiology
glycosylation
posttranslational modification
Online Access:https://www.imrpress.com/journal/FBL/28/11/10.31083/j.fbl2811300

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https://www.imrpress.com/journal/FBL/28/11/10.31083/j.fbl2811300

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