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
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
GNE myopathy: current update and future therapy.
Nishino I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
Non-specific accumulation of glycosphingolipids in GNE myopathy.
Patzel KA et al.
Journal of Inherited Metabolic Disease, 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
Validation of GNE:p.M712T identification by melting curve analysis.
Valles-Ayoub Y et al.
Genetic Testing, 2008
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
Savelkoul PJ et al.
Molecular Genetics and Metabolism, 2006
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Sparks SE et al.
Glycobiology, 2005
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.
Gottlieb E et al.
Molecular Genetics and Metabolism, 0
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