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Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE)

Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM). GNEM is an adult-onset disease with a yet unknown exact pathophysiolog...

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Detalles Bibliográficos
Autores principales: Hagenhaus, Vanessa, Gorenflos López, Jacob L., Rosenstengel, Rebecca, Neu, Carolin, Hackenberger, Christian P. R., Celik, Arif, Weinert, Klara, Nguyen, Mai-Binh, Bork, Kaya, Horstkorte, Rüdiger, Gesper, Astrid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046061/
https://www.ncbi.nlm.nih.gov/pubmed/36979358
http://dx.doi.org/10.3390/biom13030422