GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle
weakness and ultimately leads to a wheelchair bound state. Molecular research and animal …

GNE myopathy is a rare genetic neuromuscular disease that is caused due to mutations in
the GNE gene responsible for sialic acid biosynthesis. Foot drop is the most common initial …

The bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) plays a key role
in sialic acid production. It is different from the non-hydrolyzing enzymes for bacterial cell …

Background Congenital disorders of glycosylation are caused by defects in the glycosylation
of proteins and lipids. Classically, gene defects with multisystem disease have been …

Abstract UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-
terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in …

Simple organisms are preferred for understanding the molecular and cellular function (s) of
complex processes. Dictyostelium discoideum is a lower eukaryote, a protist and a cellular …

In the last two decades, numerous innovative advances, strategies and protocols have been
developed and optimized to improve the quality and quantity of soluble recombinant protein …

The human tetraspanin family of scaffold proteins comprises 33 isoforms. Being integral
membrane proteins, they organize a so-called tetraspanin web via homomeric and …