Adeno-Associated Virus-Mediated Overexpression of LARGE Rescues α-Dystroglycan Function in Dystrophic Mice with Mutations in the Fukutin-Related Protein

Multiple genes (e.g., POMT1, POMT2, POMGnT1, ISPD, GTDC2, B3GALNT2, FKTN, FKRP, and LARGE) are known to be involved in the glycosylation pathway of α-dystroglycan (α-DG). Mutations of these genes result in muscular dystrophies with wide phenotypic variability. Abnormal glycosylation of α-DG with dec...

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Bibliographic Details
Main Authors: Vannoy, Charles H., Xu, Lei, Keramaris, Elizabeth, Lu, Pei, Xiao, Xiao, Lu, Qi Long
Format: Artigo
Language:Inglês
Published: Mary Ann Liebert, Inc. 2014
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Research Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4124536/
https://ncbi.nlm.nih.gov/pubmed/24635668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hgtb.2013.151
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