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Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.
J Biol Chem. 2014 Oct 10;289(41):28138-48. doi: 10.1074/jbc.M114.597831. Epub 2014 Aug 19.
J Biol Chem. 2014.
PMID: 25138275
Free PMC article.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.
Willer T, et al.
Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.
Nat Genet. 2012.
PMID: 22522420
Free PMC article.
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