Article
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Nature communications - 19 May 2021
Wood A J, Lin C H, Li M, Nishtala K, Alaei S, Rossello F, Sonntag C, Hersey L, Miles L B, Krisp C, Dudczig S, Fulcher A J, Gibertini S, Conroy P J, Siegel A, Mora M, Jusuf P, Packer N H, Currie P D
Abstract excerpt
The muscular dystrophies encompass a broad range of pathologies with varied clinical outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these diverse pathologies arise from mutations within the same gene. This is surprising as FKRP is a glycosyltransferase, whose only identified function is to transfer ribitol-5-phosphate to α-dystroglycan (α-DG). Although this modification is...
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