Nationwide patient registry for GNE myopathy in Japan [PDF]
Orphanet Journal of Rare Diseases, 2014 BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura +7 more
core +4 more sources
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy [PDF]
, 2013 BACKGROUND: GNE myopathy is characterized by early-adult-onset distal myopathy sparing quadriceps caused by mutations in the GNE gene encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, an enzyme in the sialic-acid synthesis pathway.
서경임, 최영철, 홍지만
core +3 more sources
Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease. [PDF]
PLoS ONE, 2010 ObjectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps.
Thomas Paccalet +2 more
doaj +5 more sources
Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE) [PDF]
Biomolecules, 2023 Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM).
Vanessa Hagenhaus +10 more
doaj +4 more sources
Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study. [PDF]
Genet Med, 2021 Carrillo N +21 more
europepmc +2 more sources
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
PLoS ONE, 2008 BACKGROUND: Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
Shira Amsili +7 more
doaj +7 more sources
GNE Myopathy: Rare Muscle Weakness Disease
Synthesis: A Digital Journal of Student Science CommunicationGNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
core +2 more sources
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression [PDF]
Case Reports in Neurology, 2012 We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with
Yasuko Ikeda-Sakai +7 more
doaj +2 more sources
Insights into muscle degeneration from heritable inclusion body myopathies [PDF]
Frontiers in Aging Neuroscience, 2015 Muscle mass and function is gradually lost in age-related, degenerative neuromuscular disorders which also reflect the clinical hallmarks of sarcopenia.
Sabine eKrause
doaj +4 more sources