Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Jiao K et al.
Journal of Medical Genetics, 2024
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
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
Crystal structure of the N-acetylmannosamine kinase domain of GNE.
Tong Y et al.
Plos One, 2009
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
Penner J et al.
Biochemistry, 2006
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
Nonaka I et al.
Current Neurology and Neuroscience Reports, 2005
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
The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care.
Awasthi K et al.
Neurology India, 0
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