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    Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. 
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    • Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
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    Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.

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    Accepted version (618.0Kb)
    Volume
    20
    Pagination
    1763 - 1775
    DOI
    10.1093/hmg/ddr059
    Journal
    Hum Mol Genet
    Issue
    9
    Metadata
    Show full item record
    Abstract
    Allelic mutations in putative glycosyltransferase genes, fukutin and fukutin-related protein (fkrp), lead to a wide range of muscular dystrophies associated with hypoglycosylation of α-dystroglycan, commonly referred to as dystroglycanopathies. Defective glycosylation affecting dystroglycan-ligand interactions is considered to underlie the disease pathogenesis. We have modelled dystroglycanopathies in zebrafish using a novel loss-of-function dystroglycan allele and by inhibition of Fukutin family protein activities. We show that muscle pathology in embryos lacking Fukutin or FKRP is different from loss of dystroglycan. In addition to hypoglycosylated α-dystroglycan, knockdown of Fukutin or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration. These are a consequence of endoplasmic reticulum stress and activation of the unfolded protein response (UPR), preceding loss of dystroglycan-ligand interactions. Together, our results suggest that Fukutin family proteins may play important roles in protein secretion and that the UPR may contribute to the phenotypic spectrum of some dystroglycanopathies in humans.
    Authors
    Lin, Y-Y; White, RJ; Torelli, S; Cirak, S; Muntoni, F; Stemple, DL
    URI
    http://qmro.qmul.ac.uk/xmlui/handle/123456789/13510
    Collections
    • Centre for Genomics and Child Health [683]
    Language
    eng
    Licence information
    CC-BY
    Copyright statements
    © 2011 The Author

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