Associated Papers
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
Hinderlich S et al.
Topics in Current Chemistry, 2015
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
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I et al.
Human Mutation, 2003
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