GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka
myopathy, is a rare autosomal recessive muscle disease characterized by progressive …

The GNE gene encodes the rate‐limiting, bifunctional enzyme of sialic acid biosynthesis,
uridine diphosphate‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase …

GNE myopathy is an ultrarare muscle disease characterized by slowly progressive muscle
weakness. Symptoms typically start in early adulthood, with weakness and atrophy in the …

Abstract UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is the key
enzyme of sialic acid biosynthesis in vertebrates. It catalyzes the first two steps of the …

Podocyte health is vital for maintaining proper glomerular filtration in the kidney.
Interdigitating foot processes from podocytes form slit diaphragms which regulate the …

GNE myopathy is an autosomal recessive muscular disorder caused by mutations in the
gene encoding the key enzyme in sialic acid biosynthesis, UDP-N-acetylglucosamine 2 …

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 …

Simple Summary Humans frequently interact with pigs and porcine meat is the most
consumed red meat in the world. In addition, due to the many physiological and anatomical …

Background: GNE myopathy is a clinicopathologically distinct distal myopathy with
autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of …

Background and objective To identify the most responsive and sensitive clinical outcome
measures in GNE myopathy. Methods ClinBio-GNE is a natural history study in GNE …