Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect
protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 …

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 …

The genome of Mycobacterium tuberculosis, the causal organism of tuberculosis (TB),
encodes a unique protein family known as the PE/PPE/PGRS family, present exclusively in …

The term hereditary inclusion-body myopathies (HIBMs) defines a group of rare muscle
disorders with autosomal recessive or dominant inheritance and presence of muscle fibers …

Cell migration is an essential cellular process that requires coordination of cytoskeletal
dynamics, reorganization, and signal transduction. The actin cytoskeleton is central in …

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 …

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 …

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

Limited treatment options and research in understanding the pathomechanisms of rare
diseases has raised concerns about their therapeutic development. One such poorly …

GNE myopathy is a hereditary muscle disorder characterized by muscle atrophy and
weakness initially involving the lower distal extremities. The treatment of GNE myopathy …