Ribitol treatment rescues dystroglycanopathy mice with common L276I mutation.

Ribitol treatment rescues dystroglycanopathy mice with common L276I mutation.

Matriglycan of alpha dystroglycan (α-DG) serves as a receptor for extracellular matrix proteins. Hypoglycosylation of α-DG underlies specific types of muscular dystrophy, dystroglycanopathy. Fukutin Related Protein (FKRP) gene encodes a glycosyltransferase that adds ribitol-5-phosphate to the core g...

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Bibliographic Details
Main Authors: Bo Wu, Pei Juan Lu, Morgan Drains, Sapana Shah, Anthony Blaeser, Victoria Leroy, Jessalyn Killilee, Molly Holbrook, Qi Long Lu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0325239
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