Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy

Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy (DMRV/hIBM), characterized by progressive muscle atrophy, weakness, and degeneration, is due to mutations in GNE, a gene encoding a bifunctional enzyme critical in sialic acid biosynthesis. In the DMRV/hIBM mouse model, which ex...

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Detalhes bibliográficos
Main Authors: Malicdan, May Christine V., Noguchi, Satoru, Tokutomi, Tomoharu, Goto, Yu-ichi, Nonaka, Ikuya, Hayashi, Yukiko K., Nishino, Ichizo
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3268427/
https://ncbi.nlm.nih.gov/pubmed/22157763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.297051
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