Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder - Sharma, Shweta; Chanana, Pratibha; Bharadwaj, Ravi; Bhattacharya, Sudha; Arya, Ranjana (Biochimie, 2022)
Keywords: biosynthesis; catechin; disease progression; DnaK chaperone; enzyme activity; enzymes; Escherichia coli; GNE myopathy; heterozygosity; homozygosity; kaempferol; Metformin; muscular diseases; mutation; neuromuscular disorders; quercetin; Recombinant GNE protein expression and purification; sialic acid; Small molecule kinase activators; therapeutics; Small molecule kinase activators; CMP-NeuAc; HSP70; Recombinant GNE protein expression and purification; SNA; SA; UDP-GlcNAc; GNE myopathy; DnaK; ManNAc; AMPK; Metformin; DnaK chaperone; GNE