ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Mutations in genes required for the glycosylation of α-dystroglycan lead to muscle and brain diseases known as dystroglycanopathies. However, the precise structure and biogenesis of the assembled glycan are not completely understood. Here we report that three enzymes mutated in dystroglycanopathies...

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Gepubliceerd in:Nat Commun
Hoofdauteurs: Gerin, Isabelle, Ury, Benoît, Breloy, Isabelle, Bouchet-Seraphin, Céline, Bolsée, Jennifer, Halbout, Mathias, Graff, Julie, Vertommen, Didier, Muccioli, Giulio G., Seta, Nathalie, Cuisset, Jean-Marie, Dabaj, Ivana, Quijano-Roy, Susana, Grahn, Ammi, Van Schaftingen, Emile, Bommer, Guido T.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4873967/
https://ncbi.nlm.nih.gov/pubmed/27194101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms11534
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