Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
40225917 (PubMed )
Supplement: 7377504.f4.xlsx › Sheet1
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.
Chen SC et al.
Scientific Reports, 2016
26980148 (PubMed )
Supplement: srep23274-s1.pdf
Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2016
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
Kurochkina N et al.
Glycobiology, 2010
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.
Reinke SO et al.
Biological Chemistry, 2009
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
Nonaka I et al.
Current Neurology and Neuroscience Reports, 2005
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Hong Y et al.
The Journal of Biological Chemistry, 2003
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I et al.
Human Mutation, 2003
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
Arai A et al.
Annals of Neurology, 2002
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I et al.
Nature Genetics, 2001
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