D-ribitol-5-phosphate cytidylyltransferase
Definition:
References:
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[1]. Hirokazu Yagi, et al. Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy. Mol Cell Proteomics. 2016 Nov;15(11):3424-3434. [Content Brief]
[2]. Moniek Riemersma, et al. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation. Chem Biol. 2015 Dec 17;22(12):1643-52. [Content Brief]
[3]. Tony Roscioli, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet. 2012 May;44(5):581-5. [Content Brief]
[4]. Tobias Willer, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May;44(5):575-80. [Content Brief]
[5]. Jeremy L Praissman, et al. The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition. Elife. 2016 Apr 29;5:e14473. [Content Brief]
[6]. Motoi Kanagawa, et al. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Rep. 2016 Mar 8;14(9):2209-2223. [Content Brief]
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