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...

Descripción completa

Detalles Bibliográficos
Autores principales: Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423482/
https://www.ncbi.nlm.nih.gov/pubmed/18560563
http://dx.doi.org/10.1371/journal.pone.0002477

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423482/
https://www.ncbi.nlm.nih.gov/pubmed/18560563
http://dx.doi.org/10.1371/journal.pone.0002477

Ejemplares similares