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FEBS Journal
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Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy

Authors: Dorit, Bennmann; Wenke, Weidemann; Annett, Thate; Denise, Kreuzmann; Rüdiger, Horstkorte;

Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy

Abstract

UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) is the key enzyme for the biosynthesis of sialic acids. Sialic acids are terminal monosaccharides of glycoconjugates and gangliosides, which have an essential influence on various cell interactions. The sialylation of proteins varies during development, aging, and pathogenesis of degenerative diseases such as Morbus Alzheimer, diabetes mellitus type II, or myopathies. Mutation of methionine 743 in the GNE leads to a 30% reduction of the enzyme activity and is responsible for an aggressive form of GNE myopathy. GNE myopathy or hereditary inclusion body myopathy (HIBM) is an age‐dependent muscular dystrophy. Here, we analyzed the impact of the exchange of methionine to threonine at position 743 which introduces an additional potential phosphorylation/O‐GlcNAcylation site. We found increased O‐GlcNAcylation of the M743T variant compared to the wild‐type GNE. In addition, removal of the O‐GlcNAc of the M743T variant resulted in an increased activity comparable to activity of the wild‐type GNE. Furthermore, the half‐life of the M743T variant is two times longer than for the wild‐type GNE protein. This study provides that the balance of phosphorylation and O‐GlcNAcylation is decisive involved in efficiency and regulation of GNE.

Keywords

Genotype, Acylation, Muscular Dystrophies, Acetylglucosamine, Distal Myopathies, Methionine, Multienzyme Complexes, Mutation, Sialic Acids, Humans, Phosphorylation, HeLa Cells, Plasmids

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    15
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    Top 10%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
15
Top 10%
Average
Top 10%
bronze