Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations

M Huizing, G Rakocevic, SE Sparks, I Mamali… - Molecular genetics and …, 2004 - Elsevier
Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder
associated with mutations in the gene UDP-N-acetylglucosamine-2-epimerase/N-
acetylmannosamine kinase (GNE), whose product is the rate limiting bi-functional enzyme
catalyzing the first two steps of sialic acid biosynthesis. Loss of GNE activity in HIBM is
thought to impair sialic acid production and interfere with proper sialylation of
glycoconjugates, but it remains unclear how such a defect would lead to muscle destruction …