Title : [Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].

Pub. Date : 2010 Jun

PMID : 20548120






3 Functional Relationships(s)
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Protein Name
Organism
1 Sialic acid biosynthesis occurs in the cytosol, where UDP-N-acetylglucosamine (GlcNAc) is sequentially converted to N-acetylmannosamine (ManNAc) 6-phosphate by UDP-GlcNAc-2-epimerase/ManNAc kinase enzymes, both of which are encoded by the GNE gene. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus
2 Since the only existing mouse model of DMRV/hIBM (Gne(-/-)hGNED176VTg) exhibited decreased sialic acid levels in most organs, DMRV/hIBM is thought to be secondary to the metabolic defect in sialic acid production. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus
3 Thus our results show that the oral therapy with NeuAc and ManNAc or their derivatives is safe and effective in preventing myopathic symptoms in Gne(-/-)hGNED176VTg mice, and could be considered as a guide for further therapeutic trials. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus