2023-02-23Zeitschriftenartikel
Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE)
Hagenhaus, Vanessa; Gorenflos Lopez, Jacob; Rosenstengel, Rebecca; Neu, Carolin; Hackenberger, Christian; Celik, Arif; Weinert, Klara; Nguyen, Mai-Binh; Bork, Kaya; Horstkorte, Rüdiger; Gesper, Astrid
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 ...