Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy

The bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis. Non-allosteric GNE gene mutations cause the muscular disorder GNE myopathy (also known as hereditary inclusion body myopathy), whose exact pathology remains unknown. I...

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Détails bibliographiques
Auteurs principaux: Yardeni, Tal, Jacobs, Katherine, Niethamer, Terren K., Ciccone, Carla, Anikster, Yair, Kurochkina, Natalya, Gahl, William A., Huizing, Marjan
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3622838/
https://ncbi.nlm.nih.gov/pubmed/23266873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10719-012-9459-1
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