@article{ae7f496d068242879adb99ee826a6a6b,
title = "FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy",
abstract = "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 critical for extracellular matrix attachment, α-DG{\textquoteright}s glycosylation status relates poorly to disease severity, suggesting the existence of unidentified FKRP targets. Here we reveal that FKRP directs sialylation of fibronectin, a process essential for collagen recruitment to the muscle basement membrane. Thus, our results reveal that FKRP simultaneously regulates the two major muscle-ECM linkages essential for fibre survival, and establishes a new disease axis for the muscular dystrophies.",
author = "Wood, {A. J.} and Lin, {C. H.} and M. Li and K. Nishtala and S. Alaei and F. Rossello and C. Sonntag and L. Hersey and Miles, {L. B.} and C. Krisp and S. Dudczig and Fulcher, {A. J.} and S. Gibertini and Conroy, {P. J.} and A. Siegel and M. Mora and P. Jusuf and Packer, {N. H.} and Currie, {P. D.}",
note = "Funding Information: This work was supported by the National Health and Medical Research Council of Australia (NHMRC) (PDC, NP: APP1127741, PDC: APP1136567, APP3151883). Australian Research Council Linkage (PDC: LP120100281) in collaboration with Sigma-Aldrich and LIEF Grant (LE150100110). The Australian Regenerative Medicine Institute is supported by grants from the State Government of Victoria and the Australian Government. We acknowledge J Callaghan, I Harper, Monash Micro Imaging Facility, J Clark and A Costin, Monash Electron Microscopy Facility, L Kautto, Australian Proteomic Analysis Facility, W Moore, J Hilton and J Manneken, Aquacore core staff, Australian Regenerative Medicine Institute and Monash University Micromon sequencing facility for technical support. We also thank G Lynch and M Anderson for paper critiques. Publisher Copyright: {\textcopyright} 2021, The Author(s).",
year = "2021",
month = dec,
doi = "10.1038/s41467-021-23217-6",
language = "English",
volume = "12",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "NLM (Medline)",
number = "1",
}