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Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle

BACKGROUND: GNE myopathy (GNEM) is a severe muscle disease caused by mutations in the UDP-GlcNAc-2-epimerase/ManNAc-6-kinase (GNE) gene, which encodes a bifunctional enzyme required for sialic acid (Sia) biosynthesis. OBJECTIVE: To develop assays to demonstrate the potency of AAV gene therapy vector...

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Detalles Bibliográficos
Autores principales:	Zygmunt, Deborah A., Lam, Patricia, Ashbrook, Anna, Koczwara, Katherine, Lek, Angela, Lek, Monkol, Martin, Paul T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2023
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578240/ https://www.ncbi.nlm.nih.gov/pubmed/37458043 http://dx.doi.org/10.3233/JND-221596

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