Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.

Abstract

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 decreased extracellular ligand binding activity is a common… (More)
DOI: 10.1089/hgtb.2013.151

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@article{Vannoy2014AdenoassociatedVO, title={Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.}, author={Charles Harvey Vannoy and Lei Xu and Elizabeth Keramaris and Pei Juan Lu and Xiao Xiao and Qi Lu}, journal={Human gene therapy methods}, year={2014}, volume={25 3}, pages={187-96} }