Pub. Date : 2017
PMID : 28232658
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote in the disease. | N-Acetylneuraminic Acid | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mus musculus |
| 2 | The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. | N-Acetylneuraminic Acid | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mus musculus |
| 3 | GNE myopathy model mouse was established and supplementation of sialic acid improves the phenotype of model mouse. | N-Acetylneuraminic Acid | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mus musculus |