Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery

Abstract GNE myopathy is an autosomal recessive adult onset disorder caused by mutations in the GNE gene. GNE encodes the bifunctional enzyme UDP- N -acetylglucosamine 2-epimerase/ N -acetyl mannosamine kinase, the key enzyme in the biosynthesis pathway of sialic acid. Additional functions for GNE h...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2012-11, Vol.22 (11), p.1015-1024
Hauptverfasser:	Mitrani-Rosenbaum, Stella, Yakovlev, Lena, Becker Cohen, Michal, Telem, Michal, Elbaz, Moran, Yanay, Nurit, Yotvat, Hagit, Ben Shlomo, Uri, Harazi, Avi, Fellig, Yakov, Argov, Zohar, Sela, Ilan
Format:	Artikel
Sprache:	eng
Schlagworte:	AAV8 Animals Bifunctional enzymes Cell culture Dependovirus - genetics Enzymes Expression vectors Gene therapy Genetic Therapy Genetic Vectors - genetics GNE myopathy Hereditary diseases Humans Intravenous administration Mice Mice, Inbred C57BL mRNA Multienzyme Complexes - genetics Multienzyme Complexes - metabolism Muscle, Skeletal - enzymology Mutation Mutation - genetics Myopathy Myositis, Inclusion Body - enzymology Myositis, Inclusion Body - genetics Myositis, Inclusion Body - pathology Neurology neuromuscular system Safety Sialic acids Skeletal muscle Systemic injection Toxicity Transfer (Psychology) - physiology Transgenes UDP-N-acetylglucosamine 2-epimerase
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