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UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid. While the mechanism leading from GNE mutations to the HIBM phenotype is not yet understood, we searched for proteins potential...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2008
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2423482/
https://ncbi.nlm.nih.gov/pubmed/18560563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0002477
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