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

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 dystroglycanopathies. Here, the authors show that three of these enzymes (ISPD, FKTN and FKRP) work together to attach ribitol phosphate to α-dystroglycan.

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Detalles Bibliográficos
Autores principales: Isabelle Gerin, Benoît Ury, Isabelle Breloy, Céline Bouchet-Seraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G. Muccioli, Nathalie Seta, Jean-Marie Cuisset, Ivana Dabaj, Susana Quijano-Roy, Ammi Grahn, Emile Van Schaftingen, Guido T. Bommer
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2016
Materias:
Science
Q
Acceso en línea:https://doaj.org/article/52a41f70e28942c9b6bfb5d64d331efc
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